The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

Annals of Neurology

Volumn 56, Issue 5, 2004, Pages 631-641

  Valentino, Maria Lucia ^a   Barboni, Piero ^b   Ghelli, Anna ^a   Bucchi, Laura ^a   Rengo, Chiara ^c   Achilli, Alessandro ^c   Torroni, Antonio ^c   Lugaresi, Alessandra ^d   Lodi, Raffaele ^a   Barbiroli, Bruno ^a   Dotti, MariaTeresa ^e   Federico, Antonio ^e   Baruzzi, Agostino ^a   Carelli, Valerio ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b Centro di Oftalmologia Salus   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENERGY METABOLISM; ENZYME SUBUNIT; FEMALE; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MULTIGENE FAMILY; MUSCLE BIOPSY; MUSCLE METABOLISM; MUTATIONAL ANALYSIS; ND1 GENE; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; FERRICYANIDES; GLUTAMIC ACID; HAPLOTYPES; HUMANS; INHIBITORY CONCENTRATION 50; LYSINE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MODELS, MOLECULAR; MUSCLE, SKELETAL; MUTATION; NAD; NADH DEHYDROGENASE; OCCIPITAL LOBE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; ROTENONE; SEQUENCE ANALYSIS, PROTEIN; SUCCINATE DEHYDROGENASE; VISUAL ACUITY; VISUAL FIELDS;

EID: 9144233107     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20236     Document Type: Article

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