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

Godelieve Morel,Sylvie Bannwarth,Annabelle Chaussenot,Aline Cano,Konstantina Fragaki,Samira Ait-El-Mkadem,Cecile Rouzier,Andre Maues De Paula,Brigitte Chabrol,Veronique Paquis-Flucklinger

Neuromuscular Disorders（2016）

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摘要

•By Next-Generation Sequencing, we identified a novel heteroplasmic mutation in the mitochondrial tRNAPro, m.15958A>T.•We present a case of early-onset neuromuscular phenotype with ragged-red and COX negative fibers.•This case confirms the clinical heterogeneity associated with MTTP mutations.

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关键词

Mitochondrial myopathy,mtDNA,MTTP gene,Neuromuscular disease,New mutation,NGS

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