Author(s): Nogueira, Célia ; Marques, J.S. ; Nesti, C. ; Azevedo, A. ; Di Lullo, M. ; Meschini, M.C. ; Orlacchio, A. ; Videira, A. ; Santorelli, F.M. ; Vilarinho, L.
Date: 2014
Persistent ID: http://hdl.handle.net/10400.18/2820
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Twinkle; Doenças Genéticas
Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (IOSCA), progressive external ophthalmoplegia, and the hepatocerebral mtDNA depletion syndrome (MDS). The signs in IOSCA demonstrate a fairly distinct pattern. Among these, peripheral neuropathy seems to be the most common presenting feature in C10orf2 defects.
