I-Z-I complexes in congenital myopathy.
A 3-month-old boy with hypotonia at birth succumbed to a congenital myopathy. The major finding in his muscle biopsy corresponded to I-Z-I complexes described previously in embryonic skeletal muscle. A few previous myopathy cases have described findings suggestive of I-Z-I-like complexes. A mutation affecting mononuclear myoblasts or early myotubes was suspected, although an acquired lesion could not be ruled out. The findings may also have been altered by secondary events in this unusual case.
Rhodes
Roy H
RH
Department of Pathology, MEB 212, Robert Wood Johnson Medical School-University of Medicine and Dentistry of New Jersey, 1 Robert Wood Johnson Place, New Brunswick, New Jersey 08901, USA. rhodesrh@umdnj.edu
Sharer
Leroy R
LR
D008841:Actin Cytoskeleton / Q000473:pathology; D001706:Biopsy; D001921:Brain / Q000002:abnormalities; D015984:Causality; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007223:Infant; D007425:Intracellular Membranes / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D009123:Muscle Hypotonia / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D032448:Myoblasts, Skeletal / Q000473:pathology; D015388:Organelles / Q000473:pathology; D012508:Sarcolemma / Q000473:pathology; D012518:Sarcomeres / Q000473:pathology