Open AccessPharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports
Author(s) -
Kun Huang,
YueBei Luo,
Fangfang Bi,
Huan Yang
Publication year - 2021
Publication title -
current neuropharmacology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.955
H-Index - 73
eISSN - 1875-6190
pISSN - 1570-159X
DOI - 10.2174/1570159x18666200729092332
Subject(s) - medicine , meta analysis , cochrane library , medline , bioinformatics , congenital myasthenic syndrome , acetylcholine receptor , disease , oncology , receptor , biology , biochemistry
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of neuromuscular disorders. Mutations of the nicotinic acetylcholine receptor epsilon subunit gene (CHRNE) are the most common causes of these disorders. CMSs are gaining increasing recognition by clinicians. However, pharmacological treatment of CMS with CHRNE mutations has only been discussed in a small number of case reports.