دورية أكاديمية
أعرض في EDS

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

التفاصيل البيبلوغرافية
العنوان: Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
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
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0052002