Human genes for autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O [DOID:0110292]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2O, autosomal recessive limbgirdle muscular dystrophy type 2O, DOID:0110292, LGMD2O, MDDGC3 ...