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GENATLAS PHENOTYPE

last update : 03-04-2009

Symbol	EMD3
Location	1q22
Name	Emery-Dreifuss muscular dystrophy 3
Corresponding gene	LMNA
Other symbol(s)	EDMD3
Main clinical features	early onset contractures, progressive course, dilated cardiomyopathy with life threatening conduction blocks slowly progressive muscle weakness with scapulo-ilio-peroneal distribution and late-onset cardiomyopathy
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name

lamin A/C

Remark(s)

important role of ERK activation caused by LMNA mutations in the development of cardiomyopathy (Muchir 2009)