Nogueira, CéliaMarques, J.S.Nesti, C.Azevedo, A.Di Lullo, M.Meschini, M.C.Orlacchio, A.Videira, A.Santorelli, F.M.Vilarinho, L.2015-02-092015-02-092014-06-12http://hdl.handle.net/10400.18/2820Introduction: 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.engTwinkleDoenças Genéticasconference object