Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNALys associated with dystonia and stroke-like episodes

Acta Neurologica Scandinavica

Volumn 122, Issue 4, 2010, Pages 252-256

  Gal, A ^a   Pentelenyi, K ^a   Remenyi, V ^a   Pal, Z ^a   Csanyi, B ^b   Tomory, G ^b   Rasko, I ^b   Molnar, M J ^a,c  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b INSTITUTE OF BIOCHEMISTRY   (Hungary)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

A8332G; anticodon stem mutation; dystonia; lactic acidosis; stroke like episode; tRNALys

Indexed keywords

DEAFNESS DYSTONIA PEPTIDE 1; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; TRANSFER RNA; UNCLASSIFIED DRUG;

ANTICODON; ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; EPILEPSY; FAMILIAL DISEASE; FIBROBLAST CULTURE; HETEROPLASMY; HUMAN; MITOCHONDRIAL ENCEPHALOPATHY; MUTATION; PERCEPTION DEAFNESS; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE;

ADOLESCENT; ANTICODON; DYSTONIA; EPILEPSY; HEARING LOSS, SENSORINEURAL; HUMANS; HUNGARY; MALE; MITOCHONDRIA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RNA, TRANSFER; STROKE;

EID: 77956399055     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2009.01297.x     Document Type: Article

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