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Definition

An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan.

Acronym

MDDGC15

Synonyms

CDG1O
CDGIo
CDG Io
CDG-Io
Congenital disorder of glycosylation 1O
Congenital disorder of glycosylation type Io
Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15

Keywords

Congenital disorder of glycosylation
Congenital muscular dystrophy
Dystroglycanopathy

 
Disclaimer

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