A Cytochrome-Related Inherited Disorder of the Nervous System and Muscle
- 1 August 1970
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 23 (2), 103-112
- https://doi.org/10.1001/archneur.1970.00480260009002
Abstract
INVESTIGATION of an unusual hereditary disease of the nervous system and muscle revealed a marked reduction in the demonstrable cytochrome b content of the muscle mitochondria and other abnormalities of the cytochrome system. The purpose of this report is to present the clinical, morphological, and biochemical studies of the two patients in whom these unique defects were found, in the hope that these studies will contribute to the further understanding of the pathogenesis of similar neurological disorders. Report of Cases CASE 1.— This 46-year-old man was in excellent health until age 33, when his gait became unsteady and his speech became slurred. Shortly thereafter, movements of his hands became clumsy and his handwriting deteriorated, and, within two years, he experienced weakness of the muscles of his legs and shoulders. All of these symptoms were insidiously progressive, but cramplike muscle pains, which persisted for approximately six years after the onset ofKeywords
This publication has 18 references indexed in Scilit:
- A New Mitochondrial Myopathy in a Patient With Salt CravingArchives of Neurology, 1970
- RESPIRATORY CONTROL AND OXIDATIVE PHOSPHORYLATION IN THE DYSTROPHIC MUSCLEActa Neurologica Scandinavica, 1967
- Characteristics of skeletal muscle mitochondria isolated by a new, improved techniqueBiochemical and Biophysical Research Communications, 1967
- Ultrastructural features of intracellular lipid in normal human muscleNeurology, 1967
- A SIMPLIFIED LEAD CITRATE STAIN FOR USE IN ELECTRON MICROSCOPYThe Journal of cell biology, 1965
- The essentiality of histo‐ and cytochemical studies of skeletal muscle in the investigation of neuromuscular diseaseNeurology, 1962
- MITOCHONDRIAL LOCALIZATION OF OXIDATIVE ENZYMES: STAINING RESULTS WITH TWO TETRAZOLIUM SALTSThe Journal of cell biology, 1961
- HISTOCHEMICAL DEMONSTRATION OF CYTOCHROME OXIDASE WITH NEW AMINE REAGENTSJournal of Histochemistry & Cytochemistry, 1960
- Ulnar nerve conduction velocity and H-reflex in infants and childrenJournal of Applied Physiology, 1960
- HISTOCHEMICAL DEMONSTRATION OF PHOSPHORYLASEJournal of Histochemistry & Cytochemistry, 1956