Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies.
Open Access
- 1 July 1987
- journal article
- research article
- Published by BMJ in British Journal of Ophthalmology
- Vol. 71 (7), 531-536
- https://doi.org/10.1136/bjo.71.7.531
Abstract
Two patients with Leber's hereditary optic neuropathy underwent morphological and biochemical investigations of muscle biopsy samples from the biceps brachii. Although clinically there was no muscle weakness or atrophy, specific histochemical and electron microscopic examinations showed mild but distinct myopathic changes, including abnormal oxidative enzyme activities, aggregates of enlarged mitochondria in the subsarcolemmal regions, and disruptions of myofilaments. Biochemical analyses of mitochondria isolated from muscle samples did not show and deficiency in respiratory-chain enzyme complexes or defect in content of cytochromes. Leber's hereditary optic neuropathy is assumed to be a multisystem disorder involving skeletal muscle also.This publication has 14 references indexed in Scilit:
- The search for mitochondrial inheritance of human diseasesTrends in Genetics, 1985
- Mitochondrial myopathiesAnnals of Neurology, 1985
- LEBER'S HEREDITARY OPTIC NEURORETINOPATHY: A MITOCHONDRIAL DISEASE?Acta Neurologica Scandinavica, 1984
- Mitochondrial myopathiesEuropean Journal of Pediatrics, 1984
- Mitochondrial Inheritance in a Mitochondrially Mediated DiseaseNew England Journal of Medicine, 1983
- THIOSULPHATE-SULPHUR TRANSFERASE (RHODANESE) DEFICIENCY IN LEBER'S HEREDITARY OPTIC ATROPHYThe Lancet, 1981
- Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimensBiochemical Medicine, 1978
- NEUROLOGICAL STUDIES IN FAMILIES WITH LEBER'S OPTIC ATROPHYActa Neurologica Scandinavica, 1971
- LEBER’S HEREDITARY OPTIC ATROPHY SOME CLINICAL AND AETIOLOGICAL CONSIDERATIONSBrain, 1963
- Leber's disease in the NetherlandsDocumenta Ophthalmologica, 1963