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GENATLAS PHENOTYPE
last update : 03-04-2013
Symbol MDC1B
Location 1q42.3
Name muscular dystrophy, congenital, 1B
Other name(s) congenital muscular dystrophy proximal 1B
Corresponding gene B3GALNT2
Other symbol(s) CMDP1B
Main clinical features
  • characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine and contractures of the Achilles tendons, early respiratory failure, abnormal white matter and structural changes possible, severe hypotonia, epilepsy, possible hydrocephaly
  • dystrophic changes on muscle biopsies and partial merosin deficiency, in a consanguineous Arab kindred
  • hydrocephalus and cobblestone lissencephaly on brain MRI
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s)
  • mutations disrupt the ER localization of B3GALNT2 (PMID: 23453667))