Emery Dreifuss muscular dystrophy (EDMD): genetics
Evidence-based neurology checklist on emery dreifuss muscular dystrophy (edmd): genetics: EDMD type 1 This is caused by mutations in the STA (EMD) gene on chromosome Xq The gene encodes the nuclear envelope protein emerin The transmission is X-linked EDMD type 2 EDMD type 3 EDMD type 4 EDMD type 5…
EDMD type 1
- This is caused by mutations in the STA (EMD) gene on chromosome Xq
- The gene encodes the nuclear envelope protein emerin
- The transmission is X-linked
EDMD type 2
EDMD type 3
EDMD type 4
EDMD type 5
EDMD type 6
EDMD type 7
Other EDMD forms
References
- Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989; 26:637-641.
- Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Genet 2002; 10:157-161.
- Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the Lamin A/C gene. Ann Neurol 2000; 48:170-180.
- Brown CA, Lanning RW, McKinney KQ, et al. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 2001; 102:359-367.
- Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 p556.
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