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GENATLAS PHENOTYPE

last update : 23-12-2014

Symbol	EMD5
Location	14q23.2
Name	Emery-Dreifuss muscular dystrophy 5
Corresponding gene	SYNE2
Other symbol(s)	EDMD5
Main clinical features	proximal upper limb weakness and winged scapulae in infancy serum creatine kinase was increased and later minor respiratory insufficiency; skeletal muscle biopsy at age showed dystrophic changes; no apparent cardiac involvement later possible dilated cardiomyopathy
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)