Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.

ABSTRACT:

Importance

Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy.

Objectives

To characterize clinical, structural, electrophysiologic, and genetic features of a CMS and to search for optimal therapy.

Design, settings, and participants

Two sisters with CMS affecting the limb-girdle muscles were investigated between 2012 and 2014 at an academic medical center by clinical observation, in vitro analysis of neuromuscular transmission, cytochemical and electron microscopy studies of the neuromuscular junction, exome sequencing, expression studies in HEK293 and COS7 cells, and for response to therapy, and they were compared with

SUBMITTER: Selcen D 

PROVIDER: S-EPMC4532561 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature