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Myopathy with hexagonally cross‐linked tubular arrays: A new autosomal dominant or sporadic congenital myopathy
Author(s) -
Bourque Pierre R.,
Lach Boleslaw,
Carpenter Stirling,
Rippstein Peter
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199904)45:4<512::aid-ana13>3.0.co;2-5
Subject(s) - myopathy , congenital myopathy , medicine , pathology , biopsy , muscle biopsy
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