Emery-Dreifuss Muscular Dystrophy Questions & Answers

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22. Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Hum Genet. 1999 Mar. 104(3):262-8. [QxMD MEDLINE Link].

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25. Fairley EA, Kendrick-Jones J, Ellis JA. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. J Cell Sci. 1999 Aug. 112 ( Pt 15):2571-82. [QxMD MEDLINE Link].

26. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999 Dec 2. 341(23):1715-24. [QxMD MEDLINE Link].

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33. Manilal S, Sewry CA, Pereboev A, et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1999 Feb. 8(2):353-9. [QxMD MEDLINE Link].

34. Mercuri E, Brown SC, Nihoyannopoulos P, et al. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve. 2005 May. 31(5):602-9. [QxMD MEDLINE Link].

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36. Muchir A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22. 9(9):1453-9. [QxMD MEDLINE Link].

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38. Raffaele Di Barletta M, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr. 66(4):1407-12. [QxMD MEDLINE Link]. [Full Text].

39. van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med (Berl). 2005 Jan. 83(1):79-83. [QxMD MEDLINE Link].

40. van der Kooi AJ, Bonne G, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology. 2002 Aug 27. 59(4):620-3. [QxMD MEDLINE Link].

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Eli S Neiman, DO, FACN Clinical Associate Professor of Neurology, Department of Neurology, Kansas City University of Medicine and Biosciences College of Osteopathic Medicine; Clinical Assistant Professor, Robert C Byrd Health Science Center, West Virginia University School of Medicine; Assistant Professor of Neurology, Hackensack Meridian School of Medicine; Neurologist and Clinical Neurophysiologist, National Neuromonitoring Services, LLC; Neurologist, Advanced Neurology Center

Eli S Neiman, DO, FACN is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Osteopathic Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University in St Louis School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

James J Riviello, Jr, MD George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello, Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Partner received royalty from Up To Date for section editor.

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