DISEASES

Autosomal recessive limb-girdle muscular dystrophy type 2Y [DOID:0110289]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2Y,  autosomal recessive limbgirdle muscular dystrophy type 2Y,  DOID:0110289,  autosomal recessive muscular dystrophy due to LAP1B deficiency,  autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency ...