A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

ABSTRACT:

Background

Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS.

Case presentation

A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years. She could not run, had difficulty negotiating stairs and rising from a seated position, and fatigues when speaking at length. Her birth and past medical histories were otherwise unremarkable. There is no parental cons

SUBMITTER: Chang T 

PROVIDER: S-EPMC5055717 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature