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Title

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

AuthorsRivera, Henry; Blázquez, Alberto; Campos, Yolanda; Bornstein, Belén ; Garesse, Rafael ; Arenas, Joaquín; Martín, Miguel A.
Issue Date2007
PublisherElsevier
CitationNeuromuscular Disorders 17(9-10): 677-680 (2007)
AbstractAutosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G > C (p.R357P) mutation in the hot-spot linker region of the twinkle protein. © 2007.
URIhttp://hdl.handle.net/10261/81782
DOI10.1016/j.nmd.2007.05.006
Identifiersdoi: 10.1016/j.nmd.2007.05.006
issn: 0960-8966
e-issn: 1873-2364
Appears in Collections:(IIBM) Artículos
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