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Metadata
ID DOID:0110281
Name autosomal recessive limb-girdle muscular dystrophy type 2G
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
https://www.ncbi.nlm.nih.gov/pubmed/10655062
Xrefs

ICD10CM:G71.0

OMIM:601954

ORDO:34514

Subsets

DO_rare_slim

Synonyms

LGMD2G [EXACT]

limb-girdle muscular dystrophy due to telethonin deficiency [EXACT]

muscular dystrophy, limb-girdle, type 2G [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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