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Congenital Muscular Dystrophy, Megaconial Type

Synonym(s): Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities, MDCMC

 

OMIM

Gene	Locus	Protein
CHKB	22q13.33	Choline/ethanolamine kinase

 

For tests, please check "Related Disorders" when present.