Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects

Mitochondrion

Volumn 7, Issue 4, 2007, Pages 260-266

  Zhadanov, Sergey I ^a,b   Grechanina, Elena Ya ^c,d   Grechanina, Yulia B ^d   Gusar, Vladislava A ^c   Fedoseeva, Natalya P ^c   Lebon, Sophie ^e   Münnich, Alfred ^e   Schurr, Theodore G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^c Kharkov Inst for Adv Med Studies   (Ukraine)

^d KHARKIV NATIONAL MEDICAL UNIVERSITY   (Ukraine)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Complex I; Diencephalic epilepsy; Leigh syndrome; Mitochondriopathy; Parkinsonism; WPW

Indexed keywords

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

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROPLASMY; HETEROZYGOTE; HUMAN; LEIGH DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHYLOGENY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; PROTON TRANSPORT; SCHOOL CHILD;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CONSERVED SEQUENCE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR STRUCTURE; MUTATION; PHYLOGENY; RNA, MESSENGER; SEQUENCE ALIGNMENT;

EID: 34248664700     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2007.01.003     Document Type: Article

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