Clinical and pathological features in 15 Chinese patients with calpainopathy
العنوان: | Clinical and pathological features in 15 Chinese patients with calpainopathy |
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المؤلفون: | Yin Wang, Sushan Luo, Bo Yin, Jie Lin, Hui-min Ren, Wenhua Zhu, Jiahong Lu, Jianying Xi, Chongbo Zhao, Urtizberea J. Andoni |
المصدر: | Muscle & Nerve. 43:402-409 |
بيانات النشر: | Wiley, 2010. |
سنة النشر: | 2010 |
مصطلحات موضوعية: | Pathology, medicine.medical_specialty, medicine.diagnostic_test, biology, Physiology, business.industry, Amyotrophy, medicine.disease, Dysferlin, Cellular and Molecular Neuroscience, Atrophy, Physiology (medical), Biopsy, medicine, biology.protein, Progressive proximal muscle weakness, Neurology (clinical), medicine.symptom, Muscular dystrophy, Myopathy, business, Pathological |
الوصف: | Background: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium-activated, neutral protease (calpain-3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features. Methods: Sixty-six muscle biopsies were selected for combined Western blotting of dysferlin and calpain-3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined. Results: The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%). Conclusions: Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non-Chinese patients. Muscle Nerve, 2011 |
تدمد: | 0148-639X |
الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::4341a74361c3c15dce61838e439f67c3Test https://doi.org/10.1002/mus.21908Test |
حقوق: | CLOSED |
رقم الانضمام: | edsair.doi...........4341a74361c3c15dce61838e439f67c3 |
قاعدة البيانات: | OpenAIRE |
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