Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders
characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and
pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into
more than 31 different types.
A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine
Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause
Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB has been
In this study, the investigators examine five new cases with the LGMD phenotype. The primary
aim is to examine the muscle involvement using MRI.