DISEASES

Disease-gene associations mined from literature

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

Autosomal recessive limb-girdle muscular dystrophy type 2I [DOID:0110299]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2I,  DOID:0110299,  autosomal recessive limbgirdle muscular dystrophy type 2I,  LGMD2I,  Limb-girdle muscular dystrophy due to FKRP deficiency ...