Novel variant in DNMT1 responsible for an overlapping cerebellar and sensory neuropathy phenotype

被引:0
|
作者
Menon, Poornima Jayadev [1 ]
Bogdanova-Mihaylova, Petya [1 ]
McDermott, Garret [1 ]
Crowley, Paul [2 ]
Glynn, Fergal [3 ]
Walshe, Peter [3 ]
Alexander, Michael [1 ]
O' Dowd, Sean [1 ]
Murphy, Sinead [1 ]
机构
[1] Tallaght Univ Hosp, Dublin, Ireland
[2] Aut Even Hosp, Kilkenny, Ireland
[3] Beaumont Hosp, Dublin, Ireland
关键词
Inherited neuropathies; Hereditary sensory neuropathy type 1; DNMT1; Cognition; Cerebellar ataxia;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
16
引用
收藏
页码:313 / 313
页数:1
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