New EMD gene mutation in a brazilian family with Emery-Dreifuss muscular dystrophy: Two case reports and literature review
DOI:
https://doi.org/10.33448/rsd-v12i9.40596Keywords:
Neurology; Dystrophy; Emery-dreifuss.Abstract
Introduction Emery-Dreifuss muscular dystrophy is a rare genetic disease and corresponds to the fourth leading cause of muscular dystrophy in the world. It can be caused by mutations in several genes, including EMD, leading to a defect in the production of the emerin protein and is clinically characterized by the classic triad of muscle weakness, joint contractures and heart disease. Objective To describe two cases diagnosed with Emery-Dreifuss muscular dystrophy resulting from a new mutation in the EMD gene. Methodology Two case reports with the new mutation were described, comparing them with 148 cases in the literature after a narrative review. Results Despite the natural history of the disease being similar to the classic picture of Emery-Dreifuss muscular dystrophy, there was a greater presence of atypical symptoms than those already commonly described in the literature, especially facial involvement. Conclusion The identification of a new variant in the mutation of the EMD gene allows for a more accurate diagnosis of Emery-Dreifuss muscular dystrophy, in addition to allowing, during follow-up, the identification of different spectrums of systemic impairment related to the disease.
References
Achmad, C., Zada, A., Affani, M., Iqbal, M., Martanto, E., Purnomowati, A., & Aprami, T. M. (2017). A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. Journal of Atrial Fibrillation, 9(6). https://doi.org/10.4022/jafib.1511
Astejada, M. N., Goto, K., Nagano, A., Ura, S., Noguchi, S., Nonaka, I., Nishino, I., & Hayashi, Y. K. (2007). Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology, 26(3), 159–164. https://pubmed.ncbi.nlm.nih.gov/18646565/
Bialer, M. G., Bruns, D. E., & Kelly, T. E. (1990). Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophy. Clinical Chemistry, 36(3), 427–430. https://pubmed.ncbi.nlm.nih.gov/2311208/
Bialer, M. G., Mcdaniel, N. L., & Kelly, T. E. (1991). Progression of cardiac disease in emery-dreifuss muscular dystrophy. Clinical Cardiology, 14(5), 411–416. https://doi.org/10.1002/clc.4960140509
Binder, M. S., Brown, E., Aversano, T., Wagner, K. R., Calkins, H., & Barth, A. S. (2020). Novel FHL1 Mutation Associated with Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy. JACC: Case Reports, 2(3), 372–377. https://doi.org/10.1016/j.jaccas.2019.11.075
Blagova, O., Nedostup, A., Shumakov, D., Poptsov, V., Shestak, A., & Zaklyasminskaya, E. (2016). Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. Journal of Atrial Fibrillation, 9(4). https://doi.org/10.4022/jafib.1468
Bonne, G., Leturcq, F., & Ben Yaou, R. (1993). Emery-Dreifuss Muscular Dystrophy (M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, K. Stephens, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1436/
Bonne, G., & Quijano-Roy, S. (2013). Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handbook of Clinical Neurology, 1367–1376. https://doi.org/10.1016/b978-0-444-59565-2.00007-1
Borch, J. d. S., Krag, T., Holm‐Yildiz, S. D., Cetin, H., Solheim, T. A., Fornander, F., Straub, V., Duno, M., & Vissing, J. (2022). Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy. Human Mutation, 43(9), 1234–1238. https://doi.org/10.1002/humu.24415
Brisset, M., Ben Yaou, R., Carlier, R.-Y., Chanut, A., Nicolas, G., Romero, N. B., Wahbi, K., Decrocq, C., Leturcq, F., Laforêt, P., & Malfatti, E. (2019). X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures. Neuromuscular Disorders, 29(9), 678–683. https://doi.org/10.1016/j.nmd.2019.06.009
Calame, D. G., Fatih, J. M., Herman, I., Coban‐Akdemir, Z., Du, H., Mitani, T., Jhangiani, S. N., Marafi, D., Gibbs, R. A., Posey, J. E., Mehta, V. P., Mohila, C. A., Abid, F., Lotze, T. E., Pehlivan, D., Adesina, A. M., & Lupski, J. R. (2021). Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Annals of Clinical and Translational Neurology, 8(10), 2052–2058. https://doi.org/10.1002/acn3.51454
Carboni, N., Mura, M., Marrosu, G., Cocco, E., Ahmad, M., Solla, E., Mateddu, A., Maioli, M. A., Marini, S., Nissardi, V., Frau, J., Mallarini, G., Mercuro, G., & Marrosu, M. G. (2008). Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscular Disorders, 18(4), 291–298. https://doi.org/10.1016/j.nmd.2008.01.009
Carboni, N., Mura, M., Mercuri, E., Marrosu, G., Manzi, R. C., Cocco, E., Nissardi, V., Isola, F., Mateddu, A., Solla, E., Maioli, M. A., Oppo, V., Piras, R., Marini, S., Lai, C., Politano, L., & Marrosu, M. G. (2012). Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy. Neuromuscular Disorders, 22(2), 152–158. https://doi.org/10.1016/j.nmd.2011.09.001
Cecchin, E., & Stocco, G. (2020). Pharmacogenomics and Personalized Medicine. Genes, 11(6), 679. https://doi.org/10.3390/genes11060679
Chen, Z., Ren, Z., Mei, W., Ma, Q., Shi, Y., Zhang, Y., Li, S., Xiang, L., & Zhang, J. (2017). A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. BMC Medical Genetics, 18(1). https://doi.org/10.1186/s12881-017-0424-5
Chiba, Y., Fukushima, A., Nakao, M., Kobayashi, Y., Ishigaki, T., Tenma, T., Kamiya, K., Shingu, Y., Ooka, T., Matsui, Y., & Anzai, T. (2020). Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy. Internal Medicine, 59(10), 1277–1281. https://doi.org/10.2169/internalmedicine.4113-19
Cotta, A., Paim, J. F., Carvalho, E., Valicek, J., da Cunha Junior, A. L., Navarro, M. M., Vargas, A. P., Lima, M. I., de Almeida, C. F., Takata, R. I., & Vainzof, M. (2019). LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability. Journal of Molecular Neuroscience, 69(4), 623–627. https://doi.org/10.1007/s12031-019-01390-0
Coutance, G., Labombarda, F., Cauderlier, E., Belin, A., Richard, P., Bonne, G., & Chapon, F. (2012). Hypoplasia of the Aorta in a Patient Diagnosed withLMNAGene Mutation. Congenital Heart Disease, 8(4), E127–E129. https://doi.org/10.1111/j.1747-0803.2012.00695.x
Dai, X., Luo, R., Chen, Y., Zheng, C., Tang, Y., Zhang, H., Su, Y., He, T., & Li, X. (2020). A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy. Case Reports in Genetics, 2020, 1–7. https://doi.org/10.1155/2020/2071738
Dell’Amore, A., Botta, L., Martin Suarez, S., Lo Forte, A., Mikus, E., Camurri, N., Ortelli, L., & Arpesella, G. (2007). Heart Transplantation in Patients with Emery-Dreifuss Muscular Dystrophy: Case Reports. Transplantation Proceedings, 39(10), 3538–3540. https://doi.org/10.1016/j.transproceed.2007.06.076
Deymeer, F., Öge, A. E., Bayindir, Ç., Kaymaz, C., Nişanci, Y., Adalet, K., Yates, J. R. W., & Ózdemir, C. (1993). Emery-Dreifuss muscular dystrophy with unusual features. Muscle & Nerve, 16(12), 1359–1365. https://doi.org/10.1002/mus.880161214
Di Blasi, C., Morandi, L., Raffaele di Barletta, M., Bione, S., Bernasconi, P., Cerletti, M., Bono, R., Blasevich, F., Toniolo, D., & Mora, M. (2000). Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy. Neuromuscular Disorders, 10(8), 567–571. https://doi.org/10.1016/s0960-8966(00)00145-0
Douglas, K. A. A., Douglas, V. P., Gaier, E. D., & Chwalisz, B. K. (2021). Ptosis as Clinical Presentation in a Patient with Emery–Dreifuss Muscular Dystrophy Type 5. Journal of Neuro-Ophthalmology, 41(3), e333–e334. https://doi.org/10.1097/wno.0000000000001187
Dumitru, I. M., Vlad, N. D., Rugina, S., Onofrei, N., Gherca, S., Raduna, M., Trana, A., Dumitrascu, M., Popovici, E., Bajdechi, M., Zekra, L., & Cernat, R. C. (2021). SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy. Genes, 12(7), 1070. https://doi.org/10.3390/genes12071070
Duras, E., Sulu, A., Kafali, H. C., & Ergul, Y. (2022). A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology, 50(7), 531–534. https://doi.org/10.5543/tkda.2022.21286
Durmus, H., Serdaroglu-Oflazer, P., & Deymeer, F. (2015, January 1). Chapter 35 - Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies (B. T. Darras, H. R. Jones, M. M. Ryan, & D. C. De Vivo, Eds.). ScienceDirect; Academic Press. https://www.sciencedirect.com/science/article/pii/B9780124170445000354?via%3Dihub
Ellis, J. A., Brown, C. A., Denise Tilley, L., Kendrick-Jones, J., Edward Spence, J., & Yates, J. R. W. (2000). Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression. Neuromuscular Disorders, 10(1), 24–30. https://doi.org/10.1016/s0960-8966(99)00059-0
Ellis, J. A., Yates, J. R. W., Kendrick-Jones, J., & Brown, C. A. (1999). Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Human Genetics, 104(3), 262–268. https://doi.org/10.1007/s004390050946
Emery, A. E. H. (2000). Emery–Dreifuss muscular dystrophy – a 40-year retrospective. Neuromuscular Disorders, 10(4-5), 228–232. https://doi.org/10.1016/s0960-8966(00)00105-x
Feingold, B., Mahle, W. T., Auerbach, S., Clemens, P., Domenighetti, A. A., Jefferies, J. L., Judge, D. P., Lal, A. K., Markham, L. W., Parks, W. J., Tsuda, T., Wang, P. J., & Yoo, S.-J. (2017). Management of Cardiac Involvement Associated with Neuromuscular Diseases: A Scientific Statement from the American Heart Association. Circulation, 136(13). https://doi.org/10.1161/cir.0000000000000526
Felice, K. J., Schwartz, R. C., Brown, C. A., Leicher, C. R., & Grunnet, M. L. (2000). Autosomal dominant Emery–Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology, 55(2), 275–280. https://doi.org/10.1212/wnl.55.2.275
Fidzianska, A., Niebrój-Dobosz, I., Madej-Pilarczyk, A., Duong, N. T., & Wehnert, M. (2010). X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. Clinical Neuropathology, 29(03), 78–83. https://doi.org/10.5414/npp29078
Finsterer, J., Stöllberger, C., Sehnal, E., Rehder, H., & Laccone, F. (2015). Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A. Cardiology, 130(1), 48–51. https://doi.org/10.1159/000368222
Fujimoto, S., Ishikawa, T., Saito, M., Wada, Y., Wada, I., Arahata, K., & Nonaka, I. (1999). Early Onset of X-Linked Emery-Dreifuss Muscular Dystrophy in a Boy with Emerin Gene Deletion. Neuropediatrics, 30(03), 161–163. https://doi.org/10.1055/s-2007-973484
Fujita, T., Shimizu, M., Kaku, B., Kanaya, H., Horita, Y., Uno, Y., Yamazaki, T., Ohka, T., Sakata, K., & Mabuchi, H. (2005). Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy. Annals of Nuclear Medicine, 19(5), 411–414. https://doi.org/10.1007/bf03027407
Ghosh, P. S., & Milone, M. (2014). Clinical Reasoning: A 38-year-old woman with childhood-onset weakness. Neurology, 83(7), e81–e84. https://doi.org/10.1212/wnl.0000000000000698
Giucă, A., Mitu, C., Popescu, B. O., Bastian, A. E., Capşa, R., Mursă, A., Rădoi, V., Popescu, B. A., & Jurcuţ, R. (2020). Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report. BMC Medical Genetics, 21(1). https://doi.org/10.1186/s12881-020-01131-w
Golzio PG, Chiribiri A, Gaita F. “Unexpected” sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient. Europace. 2007 Oct 3;9(12):1158–60
Goncu, K., Guzel, R., & Guler-Uysal, F. (2003). Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures. Clinical Rheumatology, 22(6), 456–460. https://doi.org/10.1007/s10067-003-0771-9
Gossios, T. D., Lopes, L. R., & Elliott, P. M. (2013). Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1. European Journal of Medical Genetics, 56(5), 251–255. https://doi.org/10.1016/j.ejmg.2013.03.001
H. Patel, K., Shtridler, E., Capric, V., Paghdal, S., & I. McFarlane, S. (2020). Recurrent Pneumothoraces in a Patient with Emery Dreifuss Syndrome: A Case Report and Review of the Literature. American Journal of Medical Case Reports, 9(2), 98–102. https://doi.org/10.12691/ajmcr-9-2-3
Heller, S. A., Shih, R., Kalra, R., & Kang, P. B. (2020). Emery-Dreifuss muscular dystrophy. Muscle & Nerve, 61(4), 436–448. https://doi.org/10.1002/mus.26782
Higuchi, Y., Hongou, M., Ozawa, K., Kokawa, H., & Masaki, M. (2005). A Family of Emery-Dreifuss Muscular Dystrophy With Extreme Difference in Severity. Pediatric Neurology, 32(5), 358–360. https://doi.org/10.1016/j.pediatrneurol.2004.12.011
Hoeltzenbein, M., Karow, T., Zeller, J. A., Warzok, R., Wulff, K., Zschiesche, M., Herrmann, F. H., Große-Heitmeyer, W., & Wehnert, M. S. (1999). Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy. Neuromuscular Disorders, 9(3), 166–170. https://doi.org/10.1016/s0960-8966(98)00120-5
Homma, K., Nagata, E., Hanano, H., Uesugi, T., Ohnuki, Y., Matsuda, S., Kazahari, S., & Takizawa, S. (2018). A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. The Tokai Journal of Experimental and Clinical Medicine, 43(3), 103–105. https://pubmed.ncbi.nlm.nih.gov/30191544/
Hong, J.-S., Ki, C.-S., Kim, J.-W., Suh, Y.-L., Kim, J. S., Baek, K. K., Kim, B. J., Ahn, K. J., & Kim, D.-K. (2005). Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B. Journal of Korean Medical Science, 20(2), 283. https://doi.org/10.3346/jkms.2005.20.2.283
Huang, J., Wan, Q., Zou, Y., Wang, L., & Pan, Y. (2020). Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report. BMC Cardiovascular Disorders, 20(1). https://doi.org/10.1186/s12872-020-01695-8
Ichikawa, Y., Watanabe, M., Kowa, H., Murayama, S., Mizuno, T., Komuro, I., Ishiki, R., Goto, J., & Kanazawa, I. (1997). A japanese family carrying a novel mutation in the emery-dreifuss muscular dystrophy gene. Annals of Neurology, 41(3), 399–402. https://doi.org/10.1002/ana.410410316
Ifergane, G., Al-Sayed, I., Birk, O., Harel, T., & Wirguin, I. (2007). Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. European Journal of Neurology, 14(3), 305–308. https://doi.org/10.1111/j.1468-1331.2006.01657.x
Ishikawa, K., Mimuro, M., & Tanaka, T. (2011). Ventricular Arrhythmia in X-linked Emery-Dreifuss Muscular Dystrophy: A Lesson from an Autopsy Case. Internal Medicine, 50(5), 459–462. https://doi.org/10.2169/internalmedicine.50.4598
Iskandar, K., Sunartini, Astari, F. N., Gumilang, R. A., Ilma, N., Shartyanie, N. P., Adistyawan, G., Tan, G., Gunadi, & Lai, P. S. (2022). Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report. BMC Pediatrics, 22(1). https://doi.org/10.1186/s12887-022-03662-y
Jimenez-Escrig, A., Gobernado, I., Garcia-Villanueva, M., & Sanchez-Herranz, A. (2012). Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle & Nerve, 45(4), 605–610. https://doi.org/10.1002/mus.22324
Kalin, K., Oręziak, A., Franaszczyk, M., Bilińska, Z. T., Płoski, R., & Bilińska, M. (2019). Genetic muscle disorder masquerading as atrial arrhythmias with conduction defects requiring pacemaker implantation. Polish Archives of Internal Medicine. https://doi.org/10.20452/pamw.14829
KARST, M. L., HERRON, K. J., & OLSON, T. M. (2008). X-Linked Nonsyndromic Sinus Node Dysfunction and Atrial Fibrillation Caused by Emerin Mutation. Journal of Cardiovascular Electrophysiology, 19(5), 510–515. https://doi.org/10.1111/j.1540-8167.2007.01081.x
Ki, C.-S. ., Hong, J. S., Jeong, G.-Y. ., Ahn, K. J., Choi, K.-M. ., Kim, D.-K. ., & Kim, J.-W. . (2002). Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. Journal of Human Genetics, 47(5), 225–228. https://doi.org/10.1007/s100380200029
Kichuk Chrisant, M. R., Drummond-Webb, J., Hallowell, S., & Friedman, N. R. (2004). Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. The Journal of Heart and Lung Transplantation, 23(4), 496–498. https://doi.org/10.1016/s1053-2498(03)00204-3
Kim, H. Y., Ki, C.-S., Kang, S.-J., Khang, S. K., Koh, S.-H., Kim, D.-W., Kim, S. H., & Sung, I.-H. (2008). A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. Muscle & Nerve, 38(4), 1336–1339. https://doi.org/10.1002/mus.21066
Klauck, S. M., Wllgenbus, P., Yates, J. R. W., Müller, C. R., & Poustka, A. (1995). Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Human Molecular Genetics, 4(10), 1853–1857. https://doi.org/10.1093/hmg/4.10.1853
Kölbel, H., Abicht, A., Schwartz, O., Katona, I., Paulus, W., Neuen-Jacob, E., Weis, J., & Schara, U. (2019). Characteristic clinical and ultrastructural findings in nesprinopathies. European Journal of Paediatric Neurology, 23(2), 254–261. https://doi.org/10.1016/j.ejpn.2018.12.011
Kovalchuk, T., Yakovleva, E., Fetisova, S., Vershinina, T., Lebedeva, V., Lyubimtseva, T., Lebedev, D., Mitrofanova, L., Ryzhkov, A., Sokolnikova, P., Fomicheva, Y., Kozyreva, A., Zhuk, S., Smolina, N., Zlotina, A., Pervunina, T., Kostareva, A., & Vasichkina, E. (2021). Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children. Frontiers in Cardiovascular Medicine, 8. https://doi.org/10.3389/fcvm.2021.668231
Laššuthová, P., Baránková, L., Kraus, J., Maříková, T., & Seeman, P. (2009). Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene. Pediatric Neurology, 41(2), 127–130. https://doi.org/10.1016/j.pediatrneurol.2009.03.009
Lee, S. J., Lee, S., Choi, E., Shin, S., & Park, J. (2020). A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy. Clinica Chimica Acta, 506, 50–54. https://doi.org/10.1016/j.cca.2020.03.0214
Liang, W.-C., Yuo, C.-Y., Liu, C.-Y., Lee, C.-S., Goto, K., Hayashi, Y. K., & Jong, Y.-J. (2007). Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. Journal of the Formosan Medical Association, 106(2), S27–S31. https://doi.org/10.1016/s0929-6646(09)60349-1
Madej-Pilarczyk, A. (2018). Clinical aspects of Emery-Dreifuss muscular dystrophy. Nucleus, 9(1), 314–320. https://doi.org/10.1080/19491034.2018.1462635
Madej-Pilarczyk, A., Kotruchow, K., Kabzinska, D., Cegielska, J., Kochanski, A., & Hausmanowa-Petrusewicz, I. (2015). Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. Folia Neuropathologica, 3, 270–274. https://doi.org/10.5114/fn.2015.54428
Marchel, M., Madej-Pilarczyk, A., Tymińska, A., Steckiewicz, R., Kochanowski, J., Wysińska, J., Ostrowska, E., Balsam, P., Grabowski, M., & Opolski, G. (2021). Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy. Cardiology Research and Practice, 2021, 8812044. https://doi.org/10.1155/2021/8812044
Mercuri, E., Brown, S. C., Nihoyannopoulos, P., Poulton, J., Kinali, M., Richard, P., Piercy, R. J., Messina, S., Sewry, C., Burke, M. M., McKenna, W., Bonne, G., & Muntoni, F. (2005). Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle & Nerve, 31(5), 602–609. https://doi.org/10.1002/mus.20293
Mercuri, E., Manzur, A. Y., Jungbluth, H., Bonne, G., Muchir, A., Sewry, C., Schwartz, K., & Muntoni, F. (2000). Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). Neurology, 54(8), 1704–1705. https://doi.org/10.1212/wnl.54.8.1704
Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., & Bushby, K. (2004). Extreme Variability of Phenotype in Patients with an Identical Missense Mutation in the Lamin A/C Gene. Archives of Neurology, 61(5), 690. https://doi.org/10.1001/archneur.61.5.690
Mittelbronn, M., Hanisch, F., Gleichmann, M., Stötter, M., Korinthenberg, R., Wehnert, M., Bonne, G., Rudnik-Schöneborn, S., & Bornemann, A. (2006). Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B). Brain Pathology, 16(4), 266–272. https://doi.org/10.1111/j.1750-3639.2006.00028.x
Mukai, T., Mori-Yoshimura, M., Nishikawa, A., Hokkoku, K., Sonoo, M., Nishino, I., & Takahashi, Y. (2018). Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations. Muscle & Nerve, 59(2), E5–E7. https://doi.org/10.1002/mus.26355
Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. B., Richard, P., Récan, D., Shatunov, A., Sewry, C. A., & Brown, S. C. (2006). Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain, 129(5), 1260–1268. https://doi.org/10.1093/brain/awl062
Muntoni, F., Lichtarowicz-Krynska, E. J., Sewry, C. A., Manilal, S., Recan, D., Llense, S., Jacqueline Taylor, Morris, G. E., & Dubowitz, V. (1998). Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscular Disorders, 8(2), 72–76. https://doi.org/10.1016/s0960-8966(98)00006-6
Nevo, Y., Al-Lozi, M., Parsadanian, A. S., Elliott, J. L., Connolly, A. M., & Pestronk, A. (1999). Mutation analysis in emery-dreifuss muscular dystrophy. Pediatric Neurology, 21(1), 456–459. https://doi.org/10.1016/s0887-8994(99)00023-5
Nigro, G., Russo, V., Ventriglia, V. M., Cioppa, N. D., Palladino, A., Nigro, V., Calabrò, R., Nigro, G., & Politano, L. (2010). Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy. Neuromuscular Disorders, 20(3), 174–177. https://doi.org/10.1016/j.nmd.2009.12.004
Pancheri, E., Bozzetti, S., Rimessi, P., Macchione, F., Barillari, M., Venturoli, A., Guglielmi, V., Fortunato, F., Tonin, P., & Vattemi, G. (2019). A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture. Clinical Neurology and Neurosurgery, 186, 105536. https://doi.org/10.1016/j.clineuro.2019.105536
Paradas, C., Márquez, C., Gallardo, E., de Luna, N., Chinchón, I., Recan, D., Jiménez, M. D., & Illa, I. (2005). X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization. Muscle & Nerve, 32(1), 61–65. https://doi.org/10.1002/mus.20311
Park, Y.-E., Hayashi, Y. K., Goto, K., Komaki, H., Hayashi, Y., Inuzuka, T., Noguchi, S., Nonaka, I., & Nishino, I. (2009). Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscular Disorders, 19(1), 29–36. https://doi.org/10.1016/j.nmd.2008.09.018
Parmar, M. S., & Parmar, K. S. (2012). Emery-Dreifuss Humeroperoneal Muscular Dystrophy: Cardiac Manifestations. Canadian Journal of Cardiology, 28(4), 516.e1–516.e3. https://doi.org/10.1016/j.cjca.2012.01.012
Puckelwartz, M., & McNally, E. m. (2011). Emery–Dreifuss muscular dystrophy. Handbook of Clinical Neurology, 155–166. https://doi.org/10.1016/b978-0-08-045031-5.00012-8
Redondo-Vergé, L., Yaou, R. B., Fernández-Recio, M., Dinca, L., Richard, P., & Bonne, G. (2011). Cardioembolic stroke prompting diagnosis of LMNA -associated Emery-Dreifuss muscular dystrophy. Muscle & Nerve, 44(4), 587–589. https://doi.org/10.1002/mus.22179
Roy, B., & Raynor, E. (2018). Clinical Reasoning: Cardioembolic stroke in a 23-year-old man with elbow contracture. Neurology, 90(2), e172–e176. https://doi.org/10.1212/wnl.0000000000004808
Sabatelli, P., Lattanzi, G., Ognibene, A., Columbaro, M., Capanni, C., Merlini, L., Maraldi, N. M., & Squarzoni, S. (2001). Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle & Nerve, 24(6), 826–829. https://doi.org/10.1002/mus.1076
Sandra, M., Maria Pia, L., Stefano, C., Pietro, P., Crociani, P., Aldo, R., Giuseppe, D. S., & Massimo, C. (2019). Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia. Clinical Case Reports, 7(5), 1078–1082. https://doi.org/10.1002/ccr3.2140
Santos, J., Almeida, I., Pires, I., & Blanco, F. (2021). Acute heart failure and bradyarrhythmia in a young male—what hides beneath the surface?: a case report. European Heart Journal - Case Reports, 5(10). https://doi.org/10.1093/ehjcr/ytab413
Saraiva, F., Rodrigues, D., Andrade, H., Negrão, L., Gonçalves, L., Marinho, A., & Providência, L. A. (2012). Distrofia muscular de Emery-Dreifuss: a propósito de um caso clínico. Revista Portuguesa de Cardiologia, 31(3), 241–245. https://doi.org/10.1016/j.repc.2012.01.006
Sato, M., Shirasawa, H., Makino, K., Miura, H., Sato, W., Shimizu, D., Sato, N., Kumagai, J., Terada, Y., & Sato, A. (2016). Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy. American Journal of Perinatology Reports, 06(01), e145–e147. https://doi.org/10.1055/s-0036-1581058
Shahrizaila, N. (2006). Respiratory involvement in inherited primary muscle conditions. Journal of Neurology, Neurosurgery & Psychiatry, 77(10), 1108–1115. https://doi.org/10.1136/jnnp.2005.078881
Sivitskaya, L. N., Danilenko, N. G., Vaikhanskaya, T. G., Kurushka, T. V., & Davydenko, O. G. (2017). Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 36(4), 207–212. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953234/
Spanu, F., & Saba, L. (2018). Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? World Journal of Radiology, 10(7), 78–82. https://doi.org/10.4329/wjr.v10.i7.78
Stoyanov, N., Winterfield, J., Varma, N., & Gollob, M. H. (2014). Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular dystrophy. EP Europace, 16(12), 1814–1820. https://doi.org/10.1093/europace/euu141
Talkop, U., Talvik, I., Sonajalg, M., Sibul, H., Kolk, A., Piirsoo, A., Warzok, R., Wulff, K., Wehnert, M., & Talvik, T. (2002). Early onset of cardiomyopathy in two brothers with X-linked Emery–Dreifuss muscular dystrophy. Neuromuscular Disorders, 12(9), 878–881. https://doi.org/10.1016/s0960-8966(02)00134-7
Tang, Z., Hu, Z., Qin, X., Zhu, Z., & Liu, Z. (2022). Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery–Dreifuss Muscular Dystrophy: A Case Report and Literature Review. Orthopaedic Surgery. https://doi.org/10.1111/os.13526
Tao, J., Duan, J., Pi, X., Wang, H., & Li, S. (2021). A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation. Journal of Clinical Laboratory Analysis. https://doi.org/10.1002/jcla.23736
van Berlo, J. H., de Voogt, W. G., van der Kooi, A. J., van Tintelen, J. P., Bonne, G., Yaou, R. B., Duboc, D., Rossenbacker, T., Heidbüchel, H., de Visser, M., Crijns, H. J. G. M., & Pinto, Y. M. (2004). Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? Journal of Molecular Medicine, 83(1), 79–83. https://doi.org/10.1007/s00109-004-0589-1
Vignier, N., & Muchir, A. (2020). An Omics View of Emery–Dreifuss Muscular Dystrophy. Journal of Personalized Medicine, 10(2), 50. https://doi.org/10.3390/jpm10020050
Vohanka, S., Vytopil, M., Bednarik, J., Lukas, Z., Kadanka, Z., Schildberger, J., Ricotti, R., Bione, S., & Toniolo, D. (2001). A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromuscular Disorders, 11(4), 411–413. https://doi.org/10.1016/s0960-8966(00)00206-6
Vytopil, M., Ricci, E., Dello Russo, A., Hanisch, F., Neudecker, S., Zierz, S., Ricotti, R., Demay, L., Richard, P., Wehnert, M., Bonne, G., Merlini, L., & Toniolo, D. (2002). Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscular Disorders, 12(10), 958–963. https://doi.org/10.1016/s0960-8966(02)00178-5
Wang, S., & Peng, D. (2019). Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies. International Heart Journal, 60(1), 12–18. https://doi.org/10.1536/ihj.17-604
Wessely, R., Seidl, S., & Schömig, A. (2005). Cardiac involvement in Emery-Dreifuss muscular dystrophy. Clinical Genetics, 67(3), 220–223. https://doi.org/10.1111/j.1399-0004.2004.00395.x
Wiltshire, K. M., Hegele, R. A., Innes, A. M., & Brownell, A. K. W. (2013). Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. Neuromuscular Disorders, 23(3), 265–268. https://doi.org/10.1016/j.nmd.2012.11.011
Worman, H. J., Ostlund, C., & Wang, Y. (2010). Diseases of the Nuclear Envelope. Cold Spring Harbor Perspectives in Biology, 2(2), a000760–a000760. https://doi.org/10.1101/cshperspect.a000760
Yates, J. R., Warner, J. P., Smith, J. A., Deymeer, F., Azulay, J. P., Hausmanowa-Petrusewicz, I., Zaremba, J., Borkowska, J., Affara, N. A., & Ferguson-Smith, M. A. (1993). Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. Journal of Medical Genetics, 30(2), 108–111. https://doi.org/10.1136/jmg.30.2.108
Yin, R. K. (2008, October 31). Case Study Research: Design and Methods. https://doi.org/10.1604/9781412960991
Yuan, J., Ando, M., Higuchi, I., Sakiyama, Y., Matsuura, E., Michizono, K., Watanabe, O., Nagano, S., Inamori, Y., Hashiguchi, A., Higuchi, Y., Yoshimura, A., & Takashima, H. (2014). Partial Deficiency of Emerin Caused by a Splice Site Mutation in EMD. Internal Medicine, 53(14), 1563–1568. https://doi.org/10.2169/internalmedicine.53.8922
Zaim, S., Bach, J., & Michaels, J. (2008). Sudden Death in an Emery–Dreifuss Muscular Dystrophy Patient with an Implantable Defibrillator. American Journal of Physical Medicine & Rehabilitation, 87(4), 325–329. https://doi.org/10.1097/phm.0b013e318168b9d4
Zhang, L., Shen, H., Zhao, Z., Bing, Q., & Hu, J. (2015). Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. Molecular Medicine Reports, 12(4), 5065–5071. https://doi.org/10.3892/mmr.2015.4065
Zhou, J., Li, H., Li, X., Li, Y., Yang, M., Shi, G., Xu, D., & Shi, X. (2018). A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy. Brain and Behavior, 9(1), e01167. https://doi.org/10.1002/brb3.1167 olocar espaço entre uma referência e outra. Lembre-se que usamos a norma APA. (fonte TNR 8 – espaço simples -justificado)
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