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autosomal recessive limb-girdle muscular dystrophy type 2J
Summary
- Synonym
-
- 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).
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110283
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
