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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease
  • disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain (PMID: 21665002))