کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3080659 | 1189347 | 2011 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2 Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2](/preview/png/3080659.png)
چکیده انگلیسی
Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy. Neuropsychological tests and brain MRI were also performed. A de novo mutation was found in exon 4 (c.310CÂ >Â T; p.R104W). In addition to a severe and early onset axonal neuropathy, the patient presented learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy and evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy. These results suggest that MFN2 p.R104W mutation is as a hot-spot for MFN2 gene associated to a large and complex range of phenotypes.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 21, Issue 6, June 2011, Pages 428-432
Journal: Neuromuscular Disorders - Volume 21, Issue 6, June 2011, Pages 428-432
نویسندگان
Adriana Borges Genari, VinÃcius Horácio Stefani Borghetti, Silmara Paula Gouvêa, Keity Cristina Bueno, PatrÃcia Leila dos Santos, Antonio Carlos dos Santos, Amilton Antunes Barreira, Charles Marques Lourenço, Wilson Jr.,