Metadata | |
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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 | |
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 |