Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

ABSTRACT:

Introduction

Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb-girdle myasthenia with tubular aggregates. However, not all patients show tubular aggregates in muscle biopsy, suggesting the diversity of myopathology should be further investigated.

Methods

In this study, we reported two unrelated patients clinically characterized by easy fatigability, limb-girdle muscle weakness, positive decrements of repetitive stimulation, and response to pyridostigmine. The routine examinations of myopathology were conducted. The causative gene was explored by whole-exome screening. In addition, we summarized all GFPT1-related CMS patients with muscle biopsy in the literature.

Results

Pathogenic biallelic GFPT1 m

SUBMITTER: Jiang K 

PROVIDER: S-EPMC8865156 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature