Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

Brain

Volumn 130, Issue 7, 2007, Pages 1894-1904

  Malfatti, Edoardo ^a,b   Bugiani, Marianna ^a   Invernizzi, Federica ^a   De Souza, Carolina Fischinger Moura ^c   Farina, Laura ^a   Carrara, Franco ^a   Lamantea, Eleonora ^a   Antozzi, Carlo ^a   Confalonieri, Paolo ^a   Sanseverino, Maria Teresa ^c   Giugliani, Roberto ^c   Uziel, Graziella ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Assembly; Complex I deficiency; Mitochondrial encephalomyopathy; mtDNA mutation

Indexed keywords

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

ADOLESCENT; ADULT; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; COMPLEX 1 DEFICIENCY; CONTROLLED STUDY; CYBRID; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LEIGH DISEASE; MALE; MELAS SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; ND GENE; ND1 GENE; ND5 GENE; ND6 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; ANIMAL; CASE REPORT; CHILD; ENZYMOLOGY; GENETICS; METHODOLOGY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPECIES DIFFERENCE; TWO DIMENSIONAL GEL ELECTROPHORESIS;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; NADH DEHYDROGENASE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPECIES SPECIFICITY;

EID: 34447636774     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm114     Document Type: Article

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