Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
LGMD2J [EXACT] muscular dystrophy, limb-girdle, type 2J [EXACT] |
Parent Relationships |