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GENATLAS PHENOTYPE

last update : 27-08-2014

Symbol	CNM5
Location	2q35
Name	centronuclear myopathy-5
Corresponding gene	SPEG
Main clinical features	congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding, with severely delayed motor development, mental retardation some patients die in infancy, and some develop dilated cardiomyopathy
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
Type	disease

Remark(s)