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 language | English (US) |
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Pages (from-to) | 753-759 |
Number of pages | 7 |
Journal | Neuromuscular Disorders |
Volume | 15 |
Issue number | 11 |
DOIs | |
State | Published - Nov 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)