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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))