The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

European Journal of Pediatrics

Volumn 158, Issue 1, 1999, Pages 55-58

  Parfait, B ^a   De Lonlay, P ^a   Von Kleist Retzow, J C ^a   Cormier Daire, V ^a   Chretien D ^a   Rotig A ^a   Rabier, D ^a   Saudubray, J M ^a   Rustin, P ^a   Munnich, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

ATPase deficiency; Hypocitrullinaemia; T8993G mtDNA mutation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CARBAMATE KINASE; CITRULLINE; MITOCHONDRIAL DNA; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; ATAXIA; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HYPOCITRULLINEMIA; MALE; MUSCLE WEAKNESS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SYNDROME NARP;

ADENOSINE TRIPHOSPHATASES; ATAXIA; CITRULLINE; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTESTINE, SMALL; MALE; METABOLISM, INBORN ERRORS; MUSCLE WEAKNESS; MUTATION; OXIDATIVE PHOSPHORYLATION; PEDIGREE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0033039431     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051009     Document Type: Article

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