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Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2019-11-06 , DOI: 10.1016/j.ymgmr.2019.100528 Giulia Barcia 1, 2 , Zahra Assouline 1, 2 , Alessandra Pennisi 1, 2 , Cyril Gitiaux 1, 2 , Manuel Schiff 1, 2 , Nathalie Boddaert 1, 2 , Arnold Munnich 1, 2 , Jean-Paul Bonnefont 1, 2 , Agnès Rötig 1, 2
中文翻译:
在两个患有小脑性共济失调和进行性周围性轴索神经病的同胞中,双等位基因SCO2突变引起细胞色素c氧化酶缺乏。
更新日期:2019-11-06
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2019-11-06 , DOI: 10.1016/j.ymgmr.2019.100528 Giulia Barcia 1, 2 , Zahra Assouline 1, 2 , Alessandra Pennisi 1, 2 , Cyril Gitiaux 1, 2 , Manuel Schiff 1, 2 , Nathalie Boddaert 1, 2 , Arnold Munnich 1, 2 , Jean-Paul Bonnefont 1, 2 , Agnès Rötig 1, 2
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中文翻译:
在两个患有小脑性共济失调和进行性周围性轴索神经病的同胞中,双等位基因SCO2突变引起细胞色素c氧化酶缺乏。