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

In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome.
PMID: 29054413 [PubMed - indexed for MEDLINE]

Source: Biochemical and Biophysical Research communications - November 14, 2017 Category: Biochemistry Authors: Mordel P, Schaeffer S, Dupas Q, Laville MA, Gérard M, Chapon F, Allouche S Tags: Biochem Biophys Res Commun Source Type: research