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GENATLAS PHENOTYPE

last update : 30-06-2011

Symbol	MDC1E
Location	22q13.3
Name	muscular dystrophy, congenital, 1E
Other name(s)	megaconial type congenital muscular dystrophy
Corresponding gene	CHKB
Other symbol(s)	MDCMC
Main clinical features	generalized muscle hypotonia and weakness from early infancy; ambulation was delayed, and gait in those who achieved walking was limited marked mental retardation, and most never acquired meaningful language with microcephaly dilated cardiomyopathy, and ichthyosiform skin changes peculiar enlarged mitochondria prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy (PMID: 21665002))
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neuromuscular
Type	disease

Remark(s)

disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain (PMID: 21665002))