autosomal recessive limb-girdle muscular dystrophy type 2T

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 GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.

Signs and symptoms

Elevated circulating creatine kinase activity
Hypoglycosylation of alpha-dystroglycan
Limb-girdle muscle weakness
Microcephaly
Mild intellectual disability
Seizure
Muscular dystrophy
Proximal muscle weakness
Hypotonia
Respiratory insufficiency

Also known as: LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related