کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1916526 | 1047327 | 2007 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue. The patients in our family presented with skin changes as “lichen amyloidosus” and “cutis laxa”. In this FAF family, lichen amyloidosus appeared under sunlight and high temperatures in the summer season every year. Two patients in our family presented with common clinical features of FAF, except for the above laboratory results. Including previous cases and our family, this clinical phenotype is similar to the gelsolin gene mutation (G654A) in FAF family members.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 252, Issue 1, January 2007, Pages 4-8
Journal: Journal of the Neurological Sciences - Volume 252, Issue 1, January 2007, Pages 4-8
نویسندگان
Masaki Ikeda, Kazuyuki Mizushima, Yukio Fujita, Mitsunori Watanabe, Atsushi Sasaki, Kouki Makioka, Mariko Enoki, Motonobu Nakamura, Tomohiro Otani, Masamitsu Takatama, Koichi Okamoto,