LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

European Journal of Human Genetics

Volumn 13, Issue 5, 2005, Pages 623-627

  Blakely, Emma L ^a   de Silva, Rajith ^b   King, Andrew ^b   Schwarzer, Verena ^b   Harrower, Tim ^b   Dawidek, Gervase ^b   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b OLDCHURCH HOSPITAL   (United Kingdom)

Author keywords

Complex I; LHON; MELAS; Mitochondrial DNA; Overlap syndrome

Indexed keywords

CITRATE SYNTHASE; MITOCHONDRIAL DNA; MULTIENZYME COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; HETEROPLASMY; HUMAN; HUMAN TISSUE; LEBER HEREDITARY OPTIC NEUROPATHY; MELAS SYNDROME; MITOCHONDRIAL GENETICS; MTND1 GENE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE; STRUCTURAL GENE; SYNDROME DELINEATION;

ADULT; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MELAS SYNDROME; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POINT MUTATION;

EID: 18844406450     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201363     Document Type: Article

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