Article
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Neuromuscular disorders : NMD - 1 Mar 2020
Gonzalez-Perez Paloma, Smith Cheryl, Sebetka Wendy L, Gedlinske Amber, Perlman Seth, Mathews Katherine D
Abstract excerpt
A postsynaptic dysfunction of the neuromuscular junction has been reported in patients with alpha-dystroglycanopathy associated with mutations in guanosine diphosphate (GDP)-mannose pyrophosphorylase B gene (GMPPB), some of whom benefit from symptomatic treatment. In this study, we determine the frequency of myasthenic and fatigue symptoms and neuromuscular junction transmission defects in a fukutin-related...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.