Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis

Pediatric Research

Volumn 59, Issue 3, 2006, Pages 440-444

  Blakely, Emma L ^a   Rennie, Katherine J ^a   Jones, Linda ^b   Elstner, Mattias ^a   Chrzanowska Lightowlers, Zofia M A ^a   White, Christopher B ^a   Shield, Julian P H ^c   Pilz, Daniela T ^b   Turnbull, Douglass M ^a   Poulton, Joanna ^d   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c Royal Hospital for Children   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); MTND1 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

AORTA COARCTATION; ARTICLE; CASE REPORT; CHROMOSOME INVERSION; CYBRID; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; HEART; HEART VENTRICLE HYPERTROPHY; HUMAN; INFANT; LACTIC ACIDOSIS; LIVER; MOLECULAR GENETICS; MTND1 GENE; MUSCLE BIOPSY; MUSCLE TISSUE; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST; ADULT; FATALITY; GENETICS; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT VENTRICLE HYPERTROPHY; MORTALITY; NEWBORN; NUCLEOTIDE SEQUENCE; POINT MUTATION;

ACIDOSIS, LACTIC; ADULT; AORTIC COARCTATION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR; INFANT; INFANT, NEWBORN; NADH DEHYDROGENASE; POINT MUTATION;

EID: 33646104685     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000198771.78290.c4     Document Type: Article

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