NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

Abstract

Background:Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6).Methods:We have performed a mutational screening of...