title: Late-onset hereditary myopathy with abnormal mitochondria and progressive dementia.
abstract: A family with autosomal dominant late-onset progressive dementia and myopathy is described. Electron microscopy of muscle revealed abnormal mitochondria in the proband. Thus, the disease may be classified as a "mitochondrial encephalomyopathy". The cases are unique because dementia was a dominating feature and because the symptoms developed late in life. These cases may represent a new subgroup of the mitochondrial encephalomyopathies.
mesh_terms: D003704:Dementia / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree