A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy

Human Molecular Genetics

Volumn 5, Issue 11, 1996, Pages 1835-1840

  Fu, Katherine ^a   Hartlen, Rebecca ^a   Johns, Timothy ^a   Genge, Angela ^a   Karpati, George ^a   Shoubridge, Eric A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; PROTEIN;

ADULT; ARTICLE; BASE PAIRING; BLOOD CELL; CONTROLLED STUDY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; EVOLUTION; EXTERNAL OPHTHALMOPLEGIA; FIBROBLAST; GENE SEGREGATION; GENETIC DRIFT; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCLE FUNCTION; MUSCLE WEAKNESS; NUCLEIC ACID BASE SUBSTITUTION; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL; PTOSIS; RETINOPATHY; RNA TRANSLATION; SATELLITE CELL; SKELETAL MUSCLE; CELL CULTURE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; ENZYMOLOGY; GENETICS; METABOLISM; MIDDLE AGED; MITOSIS; MOLECULAR GENETICS; MUSCLE CELL; NUCLEOTIDE SEQUENCE; RETINITIS PIGMENTOSA;

BASE SEQUENCE; BLEPHAROPTOSIS; CELLS, CULTURED; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MITOSIS; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POINT MUTATION; RETINITIS PIGMENTOSA; RNA, TRANSFER, LEU;

EID: 0029658242     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1835     Document Type: Article

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