Home Page
References OMIM Gene GeneReviews HGMD HGNC
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
Gene mutationChromosome rearrangementEffectComments
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