GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

ABSTRACT:

Objective

To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations.

Methods

We performed genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission.

Results

We identified 16 recessive mutations in GFPT1 in 11 patients, of which 12 are novel. Ten patients had slowly progressive limb-girdle weakness responsive to cholinergic agonists with onset between infancy and age 19 years. One patient (no. 6) harbored a nonsense mutation and a second mutation that disrupts the muscle-specific GFPT1 exon. This patient never moved in utero, was apneic and arthrogrypotic at birth, and was bedfast, tube-fed, and barely responded to therapy at a

SUBMITTER: Selcen D 

PROVIDER: S-EPMC3772836 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature