COLQ-Mutant Congenital Myasthenic Syndromes

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-22-3-1

Keywords:

Congenital Myasthenic Syndromes, Acetylcholinesterase, Molecular Genetic Testing

Abstract

The clinical and molecular genetic findings of 22 COLQ-mutant congenital myasthenic syndromes (CMS) are reported from 14 centers mainly in Europe.

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Published

2008-03-01

Issue

Section

Neuromuscular Disorders