Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

We describe a young woman with a progressive mitochondrial myopathy that started with muscle weakness and went on to include deafness, dementia and ataxia. Skeletal muscle showed the histological and biochemical features of mitochondrial respiratory chain dysfunction. Genetic analysis identified a n...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2004-07, Vol.14 (7), p.417-420
Hauptverfasser:	Bidooki, Seyed, Jackson, Margaret J, Johnson, Margaret A, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Venables, Graham, Lightowlers, Robert N, Turnbull, Douglass M, Bindoff, Laurence A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Base Sequence DNA Mutational Analysis Female Humans Longitudinal Studies Mitochondrial Myopathies - genetics Molecular Sequence Data Muscle, Skeletal - metabolism Mutation Polymerase Chain Reaction - methods RNA - metabolism RNA, Transfer, Ser - genetics
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