摘要 : Background Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recog... 展开
作者 | Rocha~J. Taipa~R. MeloPires~M. Oliveira~J. Santos~R. Santos~M. |
---|---|
作者单位 | |
期刊名称 | 《Pediatric neurology》 |
总页数 | 4 |
语种/中图分类号 | 英语 / R72 |
关键词 | muscle biopsy myopathy ryanodine receptor RYR1 |
馆藏号 | N2007EPST0001061 |