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GENATLAS PHENOTYPE

last update : 10-04-2018

Symbol	NEM7
Location	14q13.1
Name	nemaline myopathy 7
Corresponding gene	CFL2
Main clinical features	congenital myopathy with neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy; at the biopsy, muscle contained characteristic nemaline bodies, as well as occasional fibers with minicores,
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly, concentric laminated bodies

Remark(s)