کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9200911 | 1189422 | 2005 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
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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: IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit](/preview/png/9200911.png)
چکیده انگلیسی
We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the ε subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (εV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 15, Issue 11, November 2005, Pages 753-759
Journal: Neuromuscular Disorders - Volume 15, Issue 11, November 2005, Pages 753-759
نویسندگان
Anna Fidzianska, B. Ryniewicz, Xing-Ming Shen, Andrew G. Engel,