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GENATLAS PHENOTYPE

last update : 01-08-2009

Symbol	CDG1O
Location	1q21.2
Name	congenital disorder of glycosylation 1O
Corresponding gene	DPM3
Main clinical features	mild muscle weakness and waddling gait dilated cardiomyopathy elevated CK (1500 to 3000,) with mildly elevated transaminases ; heart muscle biopsy showed no structural or histological abnormalities, but moderate muscular dystrophy with fiber-size variation, multiple internal nuclei, necrotic fibers, rimmed vacuoles, fiber splitting, and interstitial fibrosis
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	metabolism/carbohydrates
Type	disease

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