X-linked EDMD: Emerin (EMD) Gene Mutation Analysis
Autosomal EDMD: Lamin A/C (LMNA) Gene Mutation Analysis

Emery-Dreifuss muscular dystrophy (EDMD), a rare muscle disorder that may be associated with potentially lethal cardiac arrhythmias, is caused by mutations in two different genes. Mutations in the EMD gene, encoding emerin, cause X-linked EDMD ^1~6; mutations in the LMNA gene, encoding lamins A and C, cause autosomal dominant EDMD ^7~10 and a very rare autosomal recessive EDMD¹¹. Both types of Emery- Dreifuss muscular dystrophy have phenotypes that include joint contractures in early childhood, slowly progressive muscle weakness, and cardiac disease, including dilated cardiomyopathy, with conduction defects and arrhythmias. Identification of mutations in patients with Emery-Dreifuss muscular dystrophy may permit identification of carriers as well as individuals who are at high risk for dilated cardiomyopathy in these families.

Mutations in the LMNA gene may cause a variety of different diseases in addition to Emery-Dreifuss muscular dystrophy. Please also see our Assay Summary for lamin A/C gene mutation analysis.

To open a printable assay summary in a new window, click the link below.

Emery-Dreifuss Muscular Dystrophy Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

References
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2. Manilal, S. et al. (1998) Hum. Mol. Genet. 7:855-864.
3. Muntoni, F. et al. (1998) Neuromuscul. Disord. 8:72-76.
4. Hoeltzenbein, M. et al. (1999) Neuromuscul. Disord. 9:166-170.
5. Canki-Klain, N. et al. (2000) Croat. Med. J. 41:389-395.
6. Yates, J.R. et al. (1999) Neuromuscul. Disord. 9:159-65.
7. LeBonne, G. et al. (1999) Nat. Genet. 21: 285-288.
8. Genschel, J. and Schmidt, H.H.-J. (2000) Hum. Mut. 16: 451-459.
9. DiBarletta, M.R. et al. (2000) Am.J.Hum.Genet. 66: 1407-1412.
10. Brown, C.A. et al. (2001) Am. J. Med. Genet. 102: 359-367.
11. Raffaele Di Barletta, M. et al. (2000) Am. J. Hum. Genet. 66:1407-1412.

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