DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive limb-girdle muscular dystrophy type 2H

Autosomal recessive limb-girdle muscular dystrophy type 2H [DOID:0110282]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2H,  autosomal recessive limbgirdle muscular dystrophy type 2H,  DOID:0110282,  LGMD2H,  limb-girdle muscular dystrophy due to TRIM32 deficiency ...