The presence of COX negative fibres and the multiple deletions of mtDNA proved instrumental in reinforcing the hypothesis of a POLG-associated damage.14 Nevertheless, it should be said that although it does not necessarily links this gene to the neuropathy, the negative result for other causes in a comprehensive molecular analysis and the proven consequence at a tissue level favourably argued for this exceptionally atypical presentation of POLG gene. This evidence concerns the gene POLG and neuropathy.