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Diseases of oxidative phosphorylation due to mtDNA mutations
DIMAURO S; ANDREU AL; MUSUMECI O
SEMIN NEUROL , 2001, vol. 21, n° 3, p. 251-260 Doc n°: 102882 Localisation : Documentation IRR Descripteurs : AA - GENERALITES - SYSTEME NEUROMUSCULAIRE Mitochondrial encephalomyopathies are disorders due to biochemical defects in the respiratory chain, which is under dual genetic control: 13 proteins are encoded by mitochondrial DNA (mtDNA), while all others are encoded by nuclear DNA. In the past 12 years, the small circle of mtDNA has proven to be a Pandora's box of pathogenic mutations, associated with a bewildering variety of multisystemic or tissue-specific disorders. After summarizing the principles of mitochondrial genetics, we attempt to provide general principles and practical clues to the diagnosis of mtDNA-related disorders by reviewing sequentially clinical presentation, family history, laboratory data, neuroradiology, exercise physiology, muscle morphology, muscle biochemistry, and molecular genetics. Langue : ANGLAIS Tiré à part : OUI Identifiant basis : 2001219350 |
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