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GENATLAS PHENOTYPE

last update : 04-02-2020

Symbol	CNM7
Location	10p12.33
Name	centronuclear myopathy-7
Corresponding gene	HACD1
Main clinical features	congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding, with severely delayed motor development, mental retardation
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy (PMID: 23933735))