Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia
- 1 March 1977
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 34 (3) , 180-185
- https://doi.org/10.1001/archneur.1977.00500150066013
Abstract
• We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.This publication has 8 references indexed in Scilit:
- Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemiaThe American Journal of Medicine, 1974
- Chronic lactic acidosis in association with myopathy.Archives of Disease in Childhood, 1973
- Severe Hypermetabolism with Primary Abnormality of Skeletal Muscle MitochondriaAnnals of Internal Medicine, 1971
- Abnormally High Levels of Lactate and Pyruvate in Cerebrospinal Fluid of Hyperalaninemia with HyperpyruvicemiaThe Tohoku Journal of Experimental Medicine, 1970
- Familial Myopathy With Abnormal Muscle MitochondriaArchives of Neurology, 1968
- Independence of Blood and Cerebrospinal Fluid LactateArchives of Neurology, 1967
- A CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDYJournal of Clinical Investigation, 1962
- THE RELATION OF URIC ACID EXCRETION TO BLOOD LACTIC ACID IN MANAmerican Journal of Physiology-Legacy Content, 1944