کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3079981 | 1189323 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies
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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: A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies](/preview/png/3079981.png)
چکیده انگلیسی
Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 23, Issue 5, May 2013, Pages 437-440
Journal: Neuromuscular Disorders - Volume 23, Issue 5, May 2013, Pages 437-440
نویسندگان
A. D'Amico, F. Fattori, E. Bellacchio, M. Catteruccia, S. Servidei, E. Bertini,