Article
A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
Neuromuscular disorders : NMD - 1 Dec 2016
Morel Godelieve, Bannwarth Sylvie, Chaussenot Annabelle, Cano Aline, Fragaki Konstantina, Ait-El-Mkadem Samira, Rouzier Cecile, De Paula Andre Maues, Chabrol Brigitte, Paquis-Flucklinger Veronique
Abstract excerpt
An 11-year-old boy with psychomotor delay, exercise intolerance, ptosis and growth delay had a muscle biopsy showing typical mitochondrial alterations (60% of ragged-red fibers and 90% of cytochrome-c oxidase-deficient fibers). Next-generation sequencing revealed a novel heteroplasmic mutation (m.15958A>T) in the MTTP gene that encodes tRNAPro. The mutation was not present in the accessible non-muscle tissues of...
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