Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9200911 | Neuromuscular Disorders | 2005 | 7 Pages |
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.
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Authors
Anna Fidzianska, B. Ryniewicz, Xing-Ming Shen, Andrew G. Engel,