Myopathy with hexagonally cross-linked tubular arrays: A new autosomal dominant or sporadic congenital myopathy

We describe a slowly progressive myopathy with unique crystalloid inclusions in type 2 muscle fibers in a father and his son, as well as one more unrelated individual. The inclusions were strongly eosinophilic and purple by the Gomori method. They were composed of vesicular profiles, approximately 2...

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Bibliographic Details
Published in:Annals of neurology 1999-04, Vol.45 (4), p.512-515
Main Authors: Bourque, Pierre R., Lach, Boleslaw, Carpenter, Stirling, Rippstein, Peter
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Biopsy
Diseases of striated muscles. Neuromuscular diseases
Humans
Male
Medical sciences
Microscopy, Electron
Middle Aged
Muscles - pathology
Muscles - ultrastructure
Muscular Diseases - genetics
Muscular Diseases - pathology
Neurology
Citations: Items that this one cites
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Description
Summary:We describe a slowly progressive myopathy with unique crystalloid inclusions in type 2 muscle fibers in a father and his son, as well as one more unrelated individual. The inclusions were strongly eosinophilic and purple by the Gomori method. They were composed of vesicular profiles, approximately 20 nm in cross‐diameter, connected by radially arranged double spokes arising at 60° angles. The inclusions were not related to any normal cellular organelle. Extensive immunohistochemical studies failed to reveal their chemical nature. It is suggested that this is a new congenital myopathy with characteristic intracytoplasmic inclusions, occurring sporadically or with an autosomal dominant pattern of inheritance. Ann Neurol 1999;45:512–515
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(199904)45:4<512::AID-ANA13>3.0.CO;2-5