Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23-12-2014

Symbol	EMD4
Location	6q25.1
Name	Emery-Dreifuss muscular dystrophy 4
Corresponding gene	SYNE1
Other symbol(s)	EDMD4
Main clinical features	weakness and atrophy of the neck and shoulder girdle muscles with progressive development of limb contractures, no apparent cardiac involvement EMG showed a myopathic pattern, and biopsy showed dystrophic changes; creatine kinase was mildly elevated
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)