Pathogenic mitochondrial tRNA point mutations: Nine novel mutations affirm their importance as a cause of mitochondrial disease

Human Mutation

Volumn 34, Issue 9, 2013, Pages 1260-1268

  Blakely, Emma L ^a   Yarham, John W ^a   Alston, Charlotte L ^a   Craig, Kate ^a   Poulton, Joanna ^b   Brierley, Charlotte ^c   Park, Soo Mi ^d   Dean, Andrew ^e   Xuereb, John H ^e   Anderson, Kirstie N ^f   Compston, Alistair ^e   Allen, Chris ^d   Sharif, Saba ^g   Enevoldson, Peter ^h   Wilson, Martin ^h   Hammans, Simon R ⁱ   Turnbull, Douglass M ^a   Mcfarland, Robert ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c WEST SUFFOLK HOSPITAL   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^h THE WALTON CENTRE NHS FOUNDATION TRUST   (United Kingdom)

ⁱ SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

Mitochondrial disease; Mitochondrial tRNA; Segregation; Single fiber studies

Indexed keywords

MITOCHONDRIAL TRNA; TRANSFER RNA; UNCLASSIFIED DRUG;

ARTICLE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; GENETIC VARIABILITY; HEARING IMPAIRMENT; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MELAS SYNDROME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCORING SYSTEM;

EID: 84881593598     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22358     Document Type: Article

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