A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.
A family with a hitherto unrecognized type of distal myopathy is described. The disorder appears to be of late onset and to be inherited through a dominant autosome. It has a more malignant course than the distal myopathies described earlier, from which it can be differentiated clinically by an early involvement of thenar muscles and hand flexors. The key to the correct diagnosis is provided by the morphological and immunohistological investigation of muscle biopsies, which show typical sarcoplasmic bodies and an abundance of intermediate-sized (skeletin) filaments.
D000251:Adenosine Triphosphatases / Q000378:metabolism; D001706:Biopsy; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
D000251:Adenosine Triphosphatases