دورية أكاديمية
Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
العنوان: | Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies. |
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المؤلفون: | Kazunari Momma, Satoru Noguchi, May Christine V Malicdan, Yukiko K Hayashi, Narihiro Minami, Keiko Kamakura, Ikuya Nonaka, Ichizo Nishino |
المصدر: | PLoS ONE, Vol 7, Iss 12, p e52002 (2012) |
بيانات النشر: | Public Library of Science (PLoS), 2012. |
سنة النشر: | 2012 |
المجموعة: | LCC:Medicine LCC:Science |
مصطلحات موضوعية: | Medicine, Science |
الوصف: | Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 1932-6203 |
Relation: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23251671/?tool=EBI; https://doaj.org/toc/1932-6203 |
DOI: | 10.1371/journal.pone.0052002 |
URL الوصول: | https://doaj.org/article/c11a71fbb4094d2c8c81c23c9fbc2253 |
رقم الأكسشن: | edsdoj.11a71fbb4094d2c8c81c23c9fbc2253 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 19326203 |
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DOI: | 10.1371/journal.pone.0052002 |