Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

Mitochondrion

Volumn 12, Issue 2, 2012, Pages 258-261

  Cox, Rachel ^a   Platt, Julia ^a   Chen, Li Chieh ^b   Tang, Sha ^b   Wong, Lee Jun ^b   Enns, Gregory M ^a  

^a LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Heteroplasmy; Leigh syndrome; Mitochondrial DNA mutation; TRNA isoleucine

Indexed keywords

ALANINE; GLYCINE; MITOCHONDRIAL DNA; TRANSFER RNA;

AMINO ACID SUBSTITUTION; ANTICODON; ARTICLE; CASE REPORT; CELL PROLIFERATION; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; LEIGH DISEASE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA GENE; SEGREGATION ANALYSIS;

FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; LEUKOCYTES; POINT MUTATION; RNA; RNA, TRANSFER, ILE;

EID: 84858004845     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.09.006     Document Type: Article

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