کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081399 | 1189375 | 2006 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder caused by mutations in the MTM1 gene. Affected males usually present at birth with severe hypotonia and respiratory insufficiency, and most of them die within the first few years of life. We report here on a 68-year-old patient with a very mild form of the disease who was diagnosed after his grandson showed muscular weakness and respiratory problems at birth. The E404K mutation in the MTM1 gene was found in both patients. To our knowledge, this grandfather is one of the oldest and most mildly affected known patients with an MTM1 mutation to date. Thus, this family represents a remarkable phenotypic variation of XLMTM ranging from a congenital to a mild adult form.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 16, Issue 11, November 2006, Pages 749–753
Journal: Neuromuscular Disorders - Volume 16, Issue 11, November 2006, Pages 749–753
نویسندگان
Sabine Hoffjan, Charlotte Thiels, Matthias Vorgerd, Eva Neuen-Jacob, Jörg T. Epplen, Wolfram Kress,