文章基本信息
- 标题：Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant
- 本地全文：下载
- 作者：Andrea Gropman ; Anne Chiaramello
- 期刊名称：Molecular Genetics and Metabolism Reports
- 印刷版ISSN：2214-4269
- 出版年度：2018
- 卷号：15
- 页码：134
- DOI：10.1016/j.ymgmr.2018.04.004
- 出版社：Elsevier B.V.
- 关键词：Leigh Syndrome ; m.8993T>G variant ; Phenotypic variability ; Hydrocephalus ex vacuo ; Infantile spasms
