Emery-Dreifuss Muscular Dystrophy Questions & Answers

1. Meinke P, Nguyen TD, Wehnert MS. The LINC complex and human disease. Biochem Soc Trans. 2011 Dec. 39(6):1693-7. [QxMD MEDLINE Link].

2. Zhang Q, Bethmann C, Worth NF, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007 Dec 1. 16(23):2816-33. [QxMD MEDLINE Link].

3. Karl T, Duffy L, Herzog H. Behavioural profile of a new mouse model for NPY deficiency. Eur J Neurosci. 2008 Jul. 28(1):173-80. [QxMD MEDLINE Link].

4. Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke. 2003 Apr. 34 (4):901-8. [QxMD MEDLINE Link].

5. Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008 Jun 15. 146A(12):1530-42. [QxMD MEDLINE Link].

6. Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep. 85(3):338-53. [QxMD MEDLINE Link].

7. Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011 Apr. 21(4):237-51. [QxMD MEDLINE Link].

8. Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun. 69(6):1005-13. [QxMD MEDLINE Link].

9. De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, et al. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. Neurology. 2015 Dec 15. 85 (24):2126-35. [QxMD MEDLINE Link].

10. Fidzianska A, Glinka Z. Nuclear architecture remodelling in envelopathies. Folia Neuropathol. 2007. 45(2):47-55. [QxMD MEDLINE Link].

11. Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics. 2002 Feb. 33 (1):10-4. [QxMD MEDLINE Link].

12. TheTask Force on cardiac pacing and resynchronization therapy of the European Society of Cardiology (ESC). 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy. Rev Esp Cardiol (Engl Ed). 2014 Jan. 67 (1):58. [QxMD MEDLINE Link].

13. Benedetti S, Bertini E, Iannaccone S, et al. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2005 Jul. 76(7):1019-21. [QxMD MEDLINE Link]. [Full Text].

14. Bengtsson L, Wilson KL. Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr Opin Cell Biol. 2004 Feb. 16(1):73-9. [QxMD MEDLINE Link].

15. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec. 8(4):323-7. [QxMD MEDLINE Link].

16. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999 Mar. 21(3):285-8. [QxMD MEDLINE Link].

17. Bonne G, Yaou RB, Beroud C, et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord. 2003 Aug. 13(6):508-15. [QxMD MEDLINE Link].

18. Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 Jan 1. 9(1):109-12. [QxMD MEDLINE Link].

19. Cartegni L, di Barletta MR, Barresi R, et al. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1997 Dec. 6(13):2257-64. [QxMD MEDLINE Link].

20. Chakrabarti A, Pearce JM. Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry. 1981 Dec. 44(12):1146-52. [QxMD MEDLINE Link]. [Full Text].

21. Dreifuss FE, Hogan GR. Survival in x-chromosomal muscular dystrophy. Neurology. 1961 Aug. 11:734-7. [QxMD MEDLINE Link].

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].

23. Emery AE, Dreifuss FE. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966 Aug. 29(4):338-42. [QxMD MEDLINE Link]. [Full Text].

24. English KM, Gibbs JL. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol. 2006 Mar. 48(3):231-5. [QxMD MEDLINE Link].

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].

27. Gruenbaum Y, Margalit A, Goldman RD, Shumaker DK, Wilson KL. The nuclear lamina comes of age. Nat Rev Mol Cell Biol. 2005 Jan. 6(1):21-31. [QxMD MEDLINE Link].

28. Higuchi Y, Hongou M, Ozawa K, Kokawa H, Masaki M. A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity. Pediatr Neurol. 2005 May. 32(5):358-60. [QxMD MEDLINE Link].

29. Holaska JM, Kowalski AK, Wilson KL. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. PLoS Biol. 2004 Sep. 2(9):E231. [QxMD MEDLINE Link]. [Full Text].

30. Jacob KN, Garg A. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab. 2006 Apr. 87(4):289-302. [QxMD MEDLINE Link].

31. Kirschner J, Brune T, Wehnert M, et al. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol. 2005 Jan. 57(1):148-51. [QxMD MEDLINE Link].

32. Liu J, Lee KK, Segura-Totten M, Neufeld E, Wilson KL, Gruenbaum Y. MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans. Proc Natl Acad Sci U S A. 2003 Apr 15. 100(8):4598-603. [QxMD MEDLINE Link]. [Full Text].

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].

35. Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology. 1985 Aug. 35(8):1230-3. [QxMD MEDLINE Link].

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].

37. Ostlund C, Worman HJ. Nuclear envelope proteins and neuromuscular diseases. Muscle Nerve. 2003 Apr. 27(4):393-406. [QxMD MEDLINE Link].

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].

41. Zastrow MS, Vlcek S, Wilson KL. Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci. 2004 Mar 1. 117:979-87. [QxMD MEDLINE Link].

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 at Seton Hall University; 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.

• Print this section
• Print the entire contents of
• Print the entire contents of article