A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome

Mordel P, Schaeffer S, Dupas Q, Laville MA, Gerard M, Chapon F, Allouche S. A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):133-137.