Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1050
Título: Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations
Autor: Ferreira, M.
Evangelista, T.
Almeida, L.S.
Martins, J.
Macario, M.C.
Martins, E.
Moleirinho, A.
Azevedo, L.
Vilarinho, L.
Santorelli, F.M.
Palavras-chave: POLG
Multiple Deletions
Doenças Genéticas
Data: 2011
Editora: Elsevier
Citação: Neuromuscul Disord. 2011 Jul;21(7):483-8. Epub 2011 May 7
Resumo: Diseases affecting mtDNA stability, termed nuclear–mitochondrial intergenomic communication disorders, are caused by a primary nuclear gene defect resulting in multiple mtDNA deletions. The aim of this study was to estimate the frequency of known etiologies and the spectrum of mutations in a cohort of 21 patients harboring multiple mtDNA deletions in skeletal muscle. We showed that 10 cases (48%) display mutations in POLG, including eight previously reported variants and two novel mutations (namely, p.Trp585X and p.Arg1081Gln). The novel mutations affect evolutionary conserved residues and were absent in a large set of control chromosomes. These findings expand the array of mutations associated with multiple rearranged mtDNA attributed to mutations in POLG. The relatively high diagnostic yield (about one in two cases) supports the notion that it is recommended to test POLG routinely in diagnostic laboratories whenever multiple mtDNA deletions are present, regardless of the age of onset of patients and their clinical phenotype.
Peer review: yes
URI: http://hdl.handle.net/10400.18/1050
ISSN: 0960-8966
Versão do Editor: http://www.sciencedirect.com/science/article/pii/S0960896611001088
Aparece nas colecções:DGH - Artigos em revistas internacionais

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
Ferreira2011.pdf508,75 kBAdobe PDFVer/Abrir    Acesso Restrito. Solicitar cópia ao autor!

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.