Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/2049
Título: Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
Autor: Ribeiro, C
Macário, MC
Viegas, AT
Pratas, J
Santos, MJ
Simões, M
Mendes, C
Bacalhau, M
Garcia, P
Diogo, L
Grazina, M
Palavras-chave: Proteínas Mitocondriais
Doença de Leigh
Deficiência de Citocromo-c Oxidase
Data: Nov-2016
Citação: Mitochondrion. 2016 Nov;31:84-88. d
Resumo: Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.
Peer review: yes
URI: http://hdl.handle.net/10400.4/2049
DOI: 10.1016/j.mito.2016.10.004
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PED - Artigos
CDC - Artigos

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