Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome

Journal of Human Genetics

Volumn 59, Issue 7, 2014, Pages 405-407

  Negishi, Yutaka ^a   Hattori, Ayako ^a   Takeshita, Eri ^b   Sakai, Chika ^b   Ando, Naoki ^a   Ito, Tetsuya ^a   Goto, Yu Ichi ^b   Saitoh, Shinji ^a  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MT-ND1 PROTEIN, HUMAN; MULTIENZYME COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; ARTIFICIAL VENTILATION; BICEPS BRACHII MUSCLE; BRAIN STEM; CASE REPORT; CAUDATE NUCLEUS; CHILD; COMPLEX I DEFICIENCY; DISEASE COURSE; DNA DETERMINATION; DYSTONIA; ENZYME ACTIVITY; FEMALE; GASTROSTOMY; GENE MUTATION; GLOBUS PALLIDUS; HEARING AID; HOMOPLASMY; HUMAN; IMMOBILITY; INHERITANCE; LEIGH DISEASE; MALE; MUSCLE RIGIDITY; NEUROIMAGING; NEUROLOGIC GAIT DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PUTAMEN; RESPIRATORY CHAIN; RESPIRATORY FAILURE; SCHOOL CHILD; SIBLING; SPASTICITY; THALAMUS; TRACHEOSTOMY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN; ENZYME ACTIVATION; GENETICS; GENOTYPE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; ENZYME ACTIVATION; FEMALE; GENOTYPE; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; PHENOTYPE; SIBLINGS;

EID: 84905030901     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.41     Document Type: Article

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