• Huiru Feng and Hongyu Zhou.
• Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
• Medicine (Baltimore). 2017 Dec 1; 96 (51): e8981e8981.

IntroductionCongenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in nicotinic acetylcholine receptors (AChRs). Defects in the cholinergic receptor nicotinic delta subunit (CHRND) gene can cause a series of myasthenic syndromes. Here, we report 2 new compound heterozygous variants of the CHRND gene in a Chinese male with CMS.Case PresentationA 43-year-old Chinese male presented with progressive muscle weakness, difficulty chewing, and an inability to lift his head from the time he was 8 years old. He was treated with pyridostigmine, which was partially effective. Two weeks prior, he was hospitalized for dyspnea. Upon examination, he was unable to drum his cheeks and exhibited fatigable muscle weakness and facial muscle atrophy. Sequencing of his exome revealed 2 previously unreported mutations in CHRND, c.59G>A (exon2) and c.423G>C (exon5).ConclusionsWe identified a new mutational site that contributes to the onset of CMS.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

16 keywords...

hide…