Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2J |
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Synonyms: | LGMD2J, muscular dystrophy, limb-girdle, type 2J |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). |
Ontology: | Human Disease [DOID:0110283] ( DOID:0110283 ) |