کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8282541 1535154 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
چکیده انگلیسی
Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 308, Issues 1–2, 15 September 2011, Pages 173-176
نویسندگان
, , , , , , , , , , , , , , ,