IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit

Anna Fidzianska, B. Ryniewicz, Xing Ming Shen, Andrew G. Engel

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the ε subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (εV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before.

Original languageEnglish (US)
Pages (from-to)753-759
Number of pages7
JournalNeuromuscular Disorders
Volume15
Issue number11
DOIs
StatePublished - Nov 1 2005

Keywords

  • Acetylcholine receptor
  • Inclusion body myopathy
  • Inclusion body myositis
  • Slow-channel syndrome
  • Tubulofilamentous inclusions

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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