Spheroid body myopathy revisited.
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, alpha-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.
Goebel
H H
HH
Division of Neuropathology, Mainz University Medical Center, Germany.
D'Agostino
A N
AN
Wilson
J
J
Cole
G
G
Foroud
T
T
Koller
D
D
Farlow
M
M
Azzarelli
B
B
Muller
J
J
D000328:Adult; D002875:Chromosomes; D003459:Crystallins / Q000378:metabolism; D003893:Desmin / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree; D014452:Ubiquitins / Q000378:metabolism
D003459:Crystallins; D003893:Desmin; D014452:Ubiquitins