摘要 : Pathogenic variants in mitochondrial DNA (mtDNA) are associated with significant clinical heterogeneity with neuromuscular involvement commonly reported. Non-syndromic presentations of mtDNA disease continue to pose a diagnostic c... 展开
作者 | Baty~ Karen Farrugia~ Maria E. Hopton~ Sila Falkous~ Gavin Schaefer~ Andrew M. Stewart~ William Willison~ Hugh J. Reilly~ Mary M. Blakely~ Emma L. Taylor~ Robert W. Ng~ Yi Shiau |
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作者单位 | |
期刊名称 | 《Neuromuscular disorders: NMD》 |
总页数 | 8 |
语种/中图分类号 | 英语 / R741 |
关键词 | Mitochondrial DNA Muscle biopsy Segregation study MITOCHONDRIAL-DNA MUTATIONS MYOPATHY PATIENT |
馆藏号 | N2007EPST0000503 |