Emery-Dreifuss Muscular Dystrophy: Multimedia

References

1. 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. Dec 2007;16:2816-2833. [Medline].

2. Astejada MN, Goto K, Nagano A, et al. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol. Dec 2007;26:159-164. [Medline].

3. 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. Jun 2008;146A:1530-1542. [Medline].

4. Fidzianska A, Glinka Z. Nuclear architecture remodelling in envelopathies. Folia Neuropathol. 2007;45:47-55. [Medline].

5. Benedetti S, Bertini E, Iannaccone S, et al. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2005;76:1019-21. [Medline].

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

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

8. 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. Mar 1999;21(3):285-8. [Medline].

9. Bonne G, Yaou RB, Béroud 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. Aug 2003;13(6):508-15. [Medline].

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

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

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

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

14. 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. Mar 1999;104(3):262-8. [Medline].

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

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

17. 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. Aug 1999;112 ( Pt 15):2571-82. [Medline].

18. 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. Dec 2 1999;341(23):1715-24. [Medline].

19. Gruenbaum Y, Margalit A, Goldman RD, et al. The nuclear lamina comes of age. Nat Rev Mol Cell Biol. Jan 2005;6(1):21-31. [Medline].

20. Higuchi Y, Hongou M, Ozawa K, et al. A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity. Pediatr Neurol. May 2005;32(5):358-60. [Medline].

21. 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. Sep 2004;2(9):E231. [Medline].

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

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

24. Liu J, Lee KK, Segura-Totten M, et al. MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans. Proc Natl Acad Sci U S A. Apr 15 2003;100(8):4598-603. [Medline].

25. 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. Feb 1999;8(2):353-9. [Medline].

26. 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. May 2005;31(5):602-9. [Medline].

27. Miller RG, Layzer RB, Mellenthin MA, et al. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology. Aug 1985;35(8):1230-3. [Medline].

28. 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. May 22 2000;9(9):1453-9. [Medline].

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

30. Raffaele Di Barletta M, Ricci E, Galluzzi G. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Amer J Human Genet. 2000;66:1407-12. [Medline].

31. 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. Jan 2005;83(1):79-83. [Medline].

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

33. Zastrow MS, Vlcek S, Wilson KL. Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci. Mar 1 2004;117(Pt 7):979-87. [Medline].

Further Reading

Keywords

EDMD, Duchenne muscular dystrophy, Duchenne and Becker muscular dystrophies, nuclear envelope protein, emerin, EMD1, EMD2, lamin, lamin A/C, nesprins, F-actin, EMD gene, LMNA gene, cardiomyopathy, sudden cardiac death, hereditary myopathy, cardiac disease, bradycardia, rhythm disturbances, atrial cardiac conduction defects, syncope, contractures, pulmonary failure, heart failure

Contributor Information and Disclosures

Author

Glenn Lopate, MD, Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare, Consulting Staff, 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, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Medical Editor

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: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.