Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.

ABSTRACT:

Objective

GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. Our study investigates the clinicopathologic features of a patient with novel GMPPB mutations and explores the pathogenetic mechanism.

Methods

The patient was a 22-year-old woman with chronic proximal limb weakness for 9 years without cognitive deterioration. Weakness became worse after fatigue. Elevated serum creatine kinase and decrements on repetitive nerve stimulation test were recorded. MRI showed fatty infiltration in muscles of lower limbs and shoulder girdle on T1 sequence. Open muscle biopsy and genetic analysis were performed.

R

SUBMITTER: Tian WT 

PROVIDER: S-EPMC6562035 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature