A new mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

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作者： Godelieve,Morel ^[1] ; Sylvie,Bannwarth ^[2] ; Annabelle,Chaussenot ^[2] ; Aline,Cano ^[3] ; Konstantina,Fragaki ^[2] ; Samira,Ait-El-Mkadem ^[2] ; Cecile,Rouzier ^[2] ; Andre Maues,De Paula ^[4] ; Brigitte,Chabrol ^[3] ; Veronique,Paquis-Flucklinger ^[5]

作者单位： Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France. ^[1] Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. ^[2] Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, France. ^[3] Department of Neuropathology, Timone Hospital, Marseille Teaching Hospital, France. ^[4] Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. Electronic address: paquis@hermes.unice.fr. ^[5]

关键词 MTTP gene Mitochondrial myopathy NGS Neuromuscular disease New mutation mtDNA