title: Pyruvate oxidation in neuromuscular diseases. Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia.
mesh_terms: D000818:Animals; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D002526:Cerebellar Diseases / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D005621:Friedreich Ataxia / Q000235:genetics* / Q000378:metabolism; D005971:Glutamates / Q000378:metabolism; D006168:Guinea Pigs; D006651:Histocytochemistry; D006801:Humans; D009046:Motor Neurons; D009121:Muscle Denervation; D009124:Muscle Proteins / Q000378:metabolism; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009223:Myotonic Dystrophy / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000378:metabolism* / Q000473:pathology; D010084:Oxidation-Reduction; D010169:Palmitic Acids / Q000378:metabolism; D010523:Peripheral Nervous System Diseases / Q000378:metabolism; D011773:Pyruvates / Q000378:metabolism*; D012867:Skin / Q000166:cytology; D013118:Spinal Cord Diseases / Q000378:metabolism; D013386:Succinates / Q000378:metabolism; D013997:Time Factors
chemical_list: D002250:Carbon Radioisotopes; D005971:Glutamates; D009124:Muscle Proteins; D010169:Palmitic Acids; D011773:Pyruvates; D013386:Succinates