Publicação
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
| dc.contributor.author | Nogueira, Célia | |
| dc.contributor.author | Marques, J.S. | |
| dc.contributor.author | Nesti, C. | |
| dc.contributor.author | Azevedo, A. | |
| dc.contributor.author | Di Lullo, M. | |
| dc.contributor.author | Meschini, M.C. | |
| dc.contributor.author | Orlacchio, A. | |
| dc.contributor.author | Videira, A. | |
| dc.contributor.author | Santorelli, F.M. | |
| dc.contributor.author | Vilarinho, L. | |
| dc.date.accessioned | 2015-02-09T16:05:28Z | |
| dc.date.available | 2015-02-09T16:05:28Z | |
| dc.date.issued | 2014-06-12 | |
| dc.description.abstract | 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. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2820 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | no | por |
| dc.subject | Twinkle | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Newport Beach, Califórnia, US | por |
| oaire.citation.title | Symposium Mitochondrial Medicine,UMDF, 12-15 June 2013 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |