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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.