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GENATLAS PHENOTYPE

last update : 05-09-2012

Symbol	CMAC
Location	16p13.3
Name	congenital myopathy with prominent internal nuclei, atypical cores
Other name(s)	Myopathy, centronuclear, 4
Corresponding gene	CCDC78
Other symbol(s)	CNM4
Main clinical features	neonatal hypotonia, distal > proximal weakness, excessive fatigue, prominent myalgias, mild-to-moderate overall motor impairment with preserved ambulation, and mild cognitive involvement at muscular biopsy: marked type I predominance, fiber-size variability, excessive central nuclei and core-like areas
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)