autosomal recessive limb-girdle muscular dystrophy type 2K

info · Genetic · ICD-10: G71.0

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

Signs and symptoms

Elevated circulating creatine kinase activity
Delayed ability to walk
Difficulty climbing stairs
Hypoglycosylation of alpha-dystroglycan
Intellectual disability
Limb-girdle muscle weakness
Calf muscle hypertrophy
Microcephaly
Gait disturbance
Easy fatigability

Also known as: LGMD2K; MDDGC1; limb-girdle muscular dystrophy-intellectual disability syndrome; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1