کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3037978 | 1184440 | 2009 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
We report a patient harboring a novel homozygous mutation of c.604T > G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (α-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with α-dystroglycanopathy. Presence of small amounts of partly glycosylated α-DG may have a role in reducing the clinical symptoms of α-dystroglycanopathy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 31, Issue 6, June 2009, Pages 465–468
Journal: Brain and Development - Volume 31, Issue 6, June 2009, Pages 465–468
نویسندگان
Terumi Murakami, Yukiko K. Hayashi, Megumu Ogawa, Satoru Noguchi, Kevin P. Campbell, Masami Togawa, Takehiko Inoue, Akira Oka, Kousaku Ohno, Ikuya Nonaka, Ichizo Nishino,