{Reference Type}: Case Reports
{Title}: A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.
{Author}: Morel G;Bannwarth S;Chaussenot A;Cano A;Fragaki K;Ait-El-Mkadem S;Rouzier C;De Paula AM;Chabrol B;Paquis-Flucklinger V;
{Journal}: Neuromuscul Disord
{Volume}: 26
{Issue}: 12
{Year}: Dec 2016
{Factor}: 3.538
{DOI}: 10.1016/j.nmd.2016.09.012
{Abstract}: 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 the patient's asymptomatic mother. Mutations in the rarely affected MTTP gene are responsible for different clinical presentations. We report the third early-onset case associated with a mutation in this gene. The severity of myopathy is likely related to the high mutation rate (96%) found in the patient's muscle. The clinical heterogeneity associated with MTTP mutations illustrates the value of the next-generation sequencing in routine diagnosis of mitochondrial diseases.