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GENATLAS PHENOTYPE

last update : 04-02-2020

Symbol	CNM6
Location	2q31.3
Name	centronuclear myopathy-6
Corresponding gene	ZAK
Main clinical features	generalized slowly progressive muscle weakness accompanied by decreased vital capacities, with in any cases proximal contractures with distal joint hyperlaxity
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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