Abnormal Mitochondria on a Renal Biopsy from a Case of Mitochondrial Myopathy
- 1 January 1985
- journal article
- case report
- Published by Informa UK Limited in Pediatric Pathology
- Vol. 4 (1-2), 25-35
- https://doi.org/10.3109/15513818509025900
Abstract
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.Keywords
This publication has 21 references indexed in Scilit:
- Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.Archives of Disease in Childhood, 1981
- Muscle carnitine deficiency and fatal cardiomyopathyNeurology, 1978
- Morphologic and Metabolic Studies in a Case of Oculo-Cranio-Somatic Neuromuscular DiseaseJournal of Neuropathology and Experimental Neurology, 1978
- Cardiac abnormalities in chronic progressive external ophthalmoplegia.Heart, 1976
- Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondriaJournal of the Neurological Sciences, 1976
- A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafnessThe Journal of Pediatrics, 1973
- The Kearns-Shy syndrome: A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skinJournal of the Neurological Sciences, 1973
- Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissueJournal of the Neurological Sciences, 1973
- Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxiaActa Neuropathologica, 1973
- A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndromeAmerican Journal Of Medicine, 1967