Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family

Tan JS 1 , Ambang T 1 , Ahmad-Annuar A 2 , Rajahram GS 3 , Wong KT 4 , Goh KJ 1

Affiliations 

  • 1 Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 2 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 3 Department of Medicine, Hospital Queen Elizabeth, Kota Kinabalu, Sabah, Malaysia
  • 4 Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
Muscle Nerve, 2016 May;53(5):822-826.
PMID: 26789281 DOI: 10.1002/mus.25037

Abstract

Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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