An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

Human Mutation

Volumn 8, Issue 3, 1996, Pages 216-222

  Merante, F ^a   Myint, T ^a   Tein, I ^b   Benson, L ^b   Robinson, B H ^a,b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Hypertrophic cardiomyopathy; Mitochondrial tRNA point mutation; Respiratory chain activity

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; DIAGNOSTIC TEST; DNA DETERMINATION; EVOLUTION; FEMALE; HEART MUSCLE BIOPSY; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MITOCHONDRIAL RESPIRATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADENINE; ANIMALS; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; CONSERVED SEQUENCE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; EVOLUTION; FEMALE; GUANINE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MYOCARDIUM; NADPH-FERRIHEMOPROTEIN REDUCTASE; NUCLEIC ACID CONFORMATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, TRANSFER, ILE; SEQUENCE HOMOLOGY, NUCLEIC ACID; SUCCINATE CYTOCHROME C OXIDOREDUCTASE;

EID: 0029835998     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7     Document Type: Article

References (4)

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4. Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, Harding AE (1995) Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am J Hum Genet 56:1026-1033.