A new myopathy with tubulomembranous inclusions.
A muscle biopsy performed on a 16-year-old boy with progressive myopathy revealed hitherto unrecognized peculiar inclusions which consisted of 3 types of structures. The first type consisted of laminated tubulomembranous structures and most of the inclusions belonged to this type. The lamellae were regularly spaced with a periodicity of 8.5--9 nm and curving a little, and were observed as concentric lamellae according to the plane of sectioning. The second type of inclusions consisted of curvifilamentous material. The third type had the appearance of moderately electron-dense granular material surrounded by a single unit membrane. The origin and nature of these inclusions is obscure, but the diagnosis of some kind of storage myopathy was suspected in this case.
D000293:Adolescent; D001706:Biopsy; D003599:Cytoskeleton / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007425:Intracellular Membranes / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*