Leigh disease associated with a novel mitochondrial DNA ND5 mutation

European Journal of Human Genetics

Volumn 10, Issue 2, 2002, Pages 141-144

  Taylor, Robert W ^a   Morris, Andrew A M ^b   Hutchinson, Michael ^c   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Complex I; Heteroplasmy; Leigh disease; Mitochondrial DNA; Mutation

Indexed keywords

AMINO ACID; MITOCHONDRIAL DNA; POLYPEPTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; CHILDHOOD DISEASE; DEGENERATIVE DISEASE; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC DISORDER; GENETIC HETEROGENEITY; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; LEIGH DISEASE; MALE; MISSENSE MUTATION; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; RAT; SKELETAL MUSCLE; SKIN FIBROBLAST;

ADULT; CHILD; DNA, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MALE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 85047699579     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200773     Document Type: Article

References (12)

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3. Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
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5. Laboratory diagnosis of mitochondrial disease
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7. The Protein Information Resource (PIR)
8. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
9. Progressive mitochondrial disease due to a novel missense mutation in the mitochondrial DNA ND3 gene
10. Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria
11. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
12. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome