Emery-Dreifuss Muscular Dystrophy Differential Diagnoses

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

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. [Medline].

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. [Medline].

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. [Medline].

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. [Medline].

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. [Medline].

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. [Medline].

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. [Medline].

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. [Medline].

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

11. 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. [Medline].

12. 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. [Medline]. [Full Text].

13. 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. [Medline].

14. 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. [Medline].

15. 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. [Medline].

16. 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. [Medline].

17. 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. [Medline].

18. 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. [Medline].

19. 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. [Medline]. [Full Text].

20. Dreifuss FE, Hogan GR. Survival in x-chromosomal muscular dystrophy. Neurology. 1961 Aug. 11:734-7. [Medline].

21. 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. [Medline].

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

23. 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. [Medline].

24. 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. [Medline].

25. 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. [Medline].

26. 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. [Medline].

27. 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. [Medline].

28. 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. [Medline]. [Full Text].

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

30. 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. [Medline].

31. 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. [Medline]. [Full Text].

32. 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. [Medline].

33. 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. [Medline].

34. 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. [Medline].

35. 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. [Medline].

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

37. 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. [Medline]. [Full Text].

38. 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. [Medline].

39. 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. [Medline].

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

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: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alnylam Pharmaceuticals<br/>Received income in an amount equal to or greater than $250 from: Alnylam Pharmaceuticals; GLG.

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.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

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 AbbVie, Allergan, Celgene, Cellectar Biosciences, Danaher Corp, Mckesson.

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