Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T)

We report a new mutation, an A-->T transition at nt 3243 in the mitochondrial tRNA(leu)(UUR) gene, in a 9-year-old girl who presented with muscle weakness of 3 years duration complicated by rapidly progressive encephalopathy. In muscle, the activity of the mitochondrial respiratory chain complexe...

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Veröffentlicht in:	Biochemical and biophysical research communications 1997-04, Vol.233 (3), p.637-639
Hauptverfasser:	Shaag, A, Saada, A, Steinberg, A, Navon, P, Elpeleg, O N
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Child Deoxyribonucleases, Type II Site-Specific DNA Restriction Enzymes DNA, Mitochondrial - genetics Electron Transport Female Humans MELAS Syndrome - diagnosis MELAS Syndrome - genetics Mitochondria, Muscle - metabolism Mitochondrial Encephalomyopathies - diagnosis Mitochondrial Encephalomyopathies - genetics Mitochondrial Encephalomyopathies - metabolism Point Mutation RNA, Transfer, Leu - genetics
Online-Zugang:	Volltext
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