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

Blakely, Emma L; Yarham, John W; Alston, Charlotte L; Craig, Kate; Poulton, Joanna; Brierley, Charlotte; Park, Soo-Mi; Dean, Andrew; Xuereb, John H; Anderson, Kirstie N; Compston, Alistair; Allen, Chris; Sharif, Saba; Enevoldson, Peter; Wilson, Martin; Hammans, Simon R; Turnbull, Douglass M; McFarland, Robert; Taylor, Robert W

Blakely, Emma L; Yarham, John W; Alston, Charlotte L; Craig, Kate; Poulton, Joanna; Brierley, Charlotte; Park, Soo-Mi; Dean, Andrew; Xuereb, John H; Anderson, Kirstie N; Compston, Alistair; Allen, Chris; Sharif, Saba; Enevoldson, Peter; Wilson, Martin; Hammans, Simon R; Turnbull, Douglass M; McFarland, Robert; Taylor, Robert W.

Affiliation

Blakely EL; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

Hum Mutat ; 34(9): 1260-8, 2013 Sep.

Article de En | MEDLINE | ID: mdl-23696415

Sujet(s)
Mots clés

mitochondrial disease; mitochondrial tRNA; segregation; single-fiber studies

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ARN / ARN de transfert / Mutation ponctuelle / Maladies mitochondriales Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2013 Type de document: Article Pays d'affiliation: Royaume-Uni

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