A novel mutation of the COLQ gene causes congenital myasthenic syndromes: A case report

Authors

  • Shiyi Yang Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, China
  • Jing Luo Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, China
  • Fei Xiao Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, China

DOI:

https://doi.org/10.54029/2021mue

Keywords:

congenital myasthenic syndromes, COLQ, endplate acetylcholinesterase deficiency

Abstract

Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders of the neuromuscular junctions, characterised by fluctuating and fatigable weakness with an early onset. Endplate acetylcholinesterase deficiency (EAD) due to mutations in COLQ is a subtype of CMS whose key clue for diagnosis is repetitive compound muscle action potential (R-CMAP) under nerve conduction studies. In light of the significant overlap of clinical symptoms, misdiagnosis is common for CMS, causing delayed or incorrect treatments. Here, we report a case of CMS due to a novel mutation in COLQ with a typical R-CMAP and discuss the significance of R-CMAP for diagnosis.

Published

2022-01-01

Issue

Vol. 26 No. 4 (2021)

Section

Case Report