کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8689997 | 1581074 | 2017 | 25 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy](/preview/png/8689997.png)
چکیده انگلیسی
Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131Tâ>âG (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity. Decreased availability of DPM as an essential donor substrate for protein O-mannosyltransferase (POMT) 1 and 2 explains defective skeletal muscle alpha-dystroglycan O-glycosylation. Our findings show that DPM3 mutations may lead to an isolated and mild limb girdle muscular dystrophy phenotype without cardiomyopathy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 27, Issue 11, November 2017, Pages 1043-1046
Journal: Neuromuscular Disorders - Volume 27, Issue 11, November 2017, Pages 1043-1046
نویسندگان
P.Y.K. Van den Bergh, Y. Sznajer, V. Van Parys, W. van Tol, R.A. Wevers, D.J. Lefeber, L. Xu, M. Lek, D.G. MacArthur, K. Johnson, L. Phillips, A. Töpf, V. Straub,