A NOVEL HOMOZYGOUS MUTATION IN PNKP RESPONSIBLE FOR AN INTERMEDIATE/AXONAL CHARCOT-MARIE-TOOTH DISEASE

被引：0
作者：
Masingue, Marion [1 ]
Maisonobe, Thierry [2 ]
Henry, Carole [3 ]
De Becdelievre, Alix [4 ]
Konyukh, Marina [4 ]
机构：
[1] Neuromyol, Paris, France
[2] Sorbonne Univ, Dept Neurophysiol, Hop Pitie Salpetriere, AP HP, Paris, France
[3] Delafontaine Hosp, Dept Neurol, St Denis, France
[4] Henri Mondor Hosp, Dept Genet, Creteil, France
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2024年 / 29卷
关键词：
Charcot Marie Tooth disease; electrophysiology; genome sequencing;
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：
P 080
引用
收藏
页码：S34 / S35
页数：2
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