期刊
PLOS ONE
卷 7, 期 12, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0052002
关键词
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资金
- Japan Society for the Promotion of Science KAKENHI Grant [23390236]
- Welfare and Comprehensive Research on Disability Health and Welfare
- Intramural Research Grant for Neurological and Psychiatric Disorders of National Center of Neurology and Psychiatry [22-5]
- Research on rare and intractable diseases from the Ministry of Health and Labour
- US National Institute of Child Health and Human Development (NICHD)
- Grants-in-Aid for Scientific Research [23390236] Funding Source: KAKEN
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. Citation: Momma K, Noguchi S, Malicdan MCV, Hayashi YK, Minami N, et al. (2012) Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies. PLoS ONE 7(12): e52002. doi: 10.1371/journal.pone.0052002
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