کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3080322 | 1189338 | 2010 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
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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: Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations](/preview/png/3080322.png)
چکیده انگلیسی
X-linked centronuclear myopathy (XLMTM), also called myotubular myopathy, is a severe congenital myopathy characterized by generalized hypotonia and weakness at birth and the typical histological finding of centralization of myo-nuclei. It is caused by mutations in the MTM1 gene encoding the 3-phosphoinositides phosphatase myotubularin. Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM). While XLMTM is the most frequent and severe form of CNM, no mutations are found in about 30% of patients by sequencing all MTM1 exons. Moreover, the impact of MTM1 sequence variants is sometimes difficult to assess. It is thus important to devise a complete molecular diagnostic strategy that includes analysis of the myotubularin transcript and protein expression. We therefore developed novel antibodies against human myotubularin and showed that they are able to detect the endogenous protein by direct Western blot from muscle samples and from cultured cells. In conjunction with RT-PCR analysis we validated the consequences of missense and splice mutations on transcript integrity and protein level. We also detected and characterized a novel deep intronic mutation consisting of a single nucleotide change that induces exonisation of a conserved intronic sequence. Patients with centronuclear myopathy and no molecular diagnosis should be investigated for MTM1 defects at the cDNA and protein level.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 20, Issue 6, June 2010, Pages 375-381
Journal: Neuromuscular Disorders - Volume 20, Issue 6, June 2010, Pages 375-381
نویسندگان
Valérie Tosch, Nasim Vasli, Christine Kretz, Anne-Sophie Nicot, Claire Gasnier, Nicolas Dondaine, Denis Oriot, Magalie Barth, Hugues Puissant, Norma B. Romero, Carsten G. Bönnemann, Betty Heller, Gilles Duval, Valérie Biancalana, Jocelyn Laporte,