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
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
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.131T > G (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
نویسندگان
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