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GENATLAS PHENOTYPE

last update : 06-04-2021

Symbol	MYOCOZ
Location	1q43
Name	myopathy, congenital with structured cores and Z-line abnormalities
Corresponding gene	ACTN2
Main clinical features	congenital myopathy that varied in severity delayed walking, with diffuse muscle weakness, extraocular muscle weakness during childhood, scoliosis, and lost ambulation; later respiratory insufficiency electron microscopy confirmed the presence of multiple cores spanning almost the entire width and length of the fibers, as well as areas of dispersed Z-line material, consistent with disruption of myofibrillar organization
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)