Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

ABSTRACT:

Objective

In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type 2T.

Methods

Six new patients with genetically verified mutations in GMPPB were studied. T1-weighted magnetic resonance images were obtained in 4 participants. Muscle strength and potential involvement of extramuscular organs were examined. Glycosylation of α-dystroglycan in muscle was studied, and GMPPB and α-dystroglycan expression was analyzed by Western blotting. Prevalence of LGMD2T was calculated from the total LGMD population in Denmark. GMPPB was sequenced in all unclassified cases.

Results

Two patients carried 3 new mutations in GMPPB</

SUBMITTER: Oestergaard ST 

PROVIDER: S-EPMC5061416 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature