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Spheroid body myopathy revisited
Author(s) -
Goebel Hans H.,
D'Agostino Anthony N.,
Wilson Jacob,
Cole George,
Foroud Tatiana,
Koller Daniel,
Farlow Martin,
Azzarelli Biagio,
Muller Jans
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a
Subject(s) - spheroid , myopathy , desmin , anatomy , pathology , biology , medicine , genetics , immunohistochemistry , vimentin , cell culture
Having reported spheroid body myopathy from Indiana (IN) inherited in an autosomal‐dominant fashion several years ago, we now describe additional findings from the Oregon branch—briefly recorded earlier—and confirm earlier studies in another clinically affected IN member of this kinship demonstrating identical spheroid bodies within the myopathic muscle specimens. The spheroid bodies also contained increased amounts of desmin, α‐B crystallin, and ubiquitin within muscle fibers. Our studies now have established that spheroid body myopathy is a member of the growing family of desminopathic neuromuscular conditions. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20: 1127–1136, 1997