A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.
|Titolo:||A CASE OF MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS AND COMPLEX-I DEFICIENCY|
BET, LUCIANO (Primo)
BRESOLIN, NEREO (Secondo)
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||1990|
|Digital Object Identifier (DOI):||10.1007/BF00314729|
|Appare nelle tipologie:||01 - Articolo su periodico|