Distal myopathy with focal granular degenerative change in vacuolated type 2 fibers.
A slowly progressive distal myopathy with raised blood (CK) level commencing in the second decade was associated with large vacuoles found only in type 2 fibers. The vacuoles consisted of sarcoplasmic spaces without limiting membranes, containing granular and fibrillar material. This material probably represented degenerative products derived from myofibrils. A distinction is drawn between these degenerative vacuolar changes and those reported in other cases of sporadic or hereditary distal myopathy in which autophagic vacuoles are characteristic.
Swash
M
M
Department of Neurology, London Hospital, UK.
Schwarz
M S
MS
Thompson
A
A
Cox
E
E
Gray
A
A
D000328:Adult; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009135:Muscular Diseases / Q000473:pathology*; D009210:Myofibrils / Q000648:ultrastructure; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure*