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A Cytochrome-Related Inherited Disorder of the Nervous System and Muscle
Alfred J. Spiro, MD;
Cyril L. Moore, PhD;
John W. Prineas, MB, MRCP;
Paula M. Strasberg, PhD;
Isabelle Rapin, MD
Arch Neurol. 1970;23(2):103-112.
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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 of
. . . [Full Text PDF of this Article]
Author Affiliations
Bronx, NY
From the Saul R. Korey Department of Neurology and the Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY. Dr. Prineas is now with the Department of Medicine, University of Sydney, Sydney, Australia. Dr. Strasberg is now with the Department of Biochemistry, McGill University, Montreal.
Footnotes
Accepted for publication April 4, 1970.
Reprint requests to Albert Einstein College of Medicine, Eastchester Road and Morris Park Avenue, Bronx, NY 10461 (Dr. Spiro).
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