کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8281012 | 1535144 | 2012 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Mutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. We investigated whether there is a characteristic muscle involvement in both sexes. Despite the variety of symptoms exhibited by the male and female patients, the systemic imaging studies showed a similar pattern: the flexor muscles of the brachium and thigh were affected earlier than the extensor muscle with a profound degeneration of the paraspinal muscles. These findings may include one of the characteristic clinical features for suspecting a mutation in the second LIM domain.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 318, Issues 1â2, 15 July 2012, Pages 163-167
Journal: Journal of the Neurological Sciences - Volume 318, Issues 1â2, 15 July 2012, Pages 163-167
نویسندگان
Tomoko Komagamine, Mitsuru Kawai, Norito Kokubun, Satoko Miyatake, Katsuhisa Ogata, Yukiko K. Hayashi, Ichizo Nishino, Koichi Hirata,