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Metadata
ID DOID:0110283
Name autosomal recessive limb-girdle muscular dystrophy type 2J
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
https://www.ncbi.nlm.nih.gov/pubmed/12145747
Xrefs

ICD10CM:G71.0

MIM:608807

ORDO:140922

Subsets

DO_rare_slim

Synonyms

LGMD2J [EXACT]

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

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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