Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy.
Mitochondrial myopathy (MM) is reported in a 5-year-old girl with short stature, hypotonia, ptosis, retinal pigmentation, and Fanconi's syndrome. A muscle biopsy showed the characteristic features of MM, and a renal biopsy revealed abnormal mitochondria in tubular cells that were similar to those seen in the muscle. This is the first report of such findings in association with MM.
D002675:Child, Preschool; D004848:Epithelium / Q000473:pathology; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000473:pathology; D007687:Kidney Tubules, Proximal / Q000473:pathology; D008854:Microscopy, Electron; D008928:Mitochondria / Q000473:pathology*; D008931:Mitochondria, Muscle / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology*