A de novo C19orf12 heterozygous mutation in a patient with MPAN

被引：16
|
作者：
Monfrini, Edoardo [1 ]
Melzi, Valentina [1 ]
Buongarzone, Gabriele [1 ]
Franco, Giulia [1 ]
Ronchi, Dario [1 ]
Dilena, Robertino [2 ]
Scola, Elisa [3 ]
Vizziello, Paola [4 ]
Bordoni, Andreina [1 ]
Bresolin, Nereo [1 ]
Comi, Giacomo Pietro [1 ]
Corti, Stefania [1 ]
Di Fonzo, Alessio [1 ]
机构：
[1] Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Ditto Ferrari Ctr,Neurosci Sect, Milan, Italy
[2] Fdn IRCCS Ca Granda Osped Maggiore Policlin, UO Neurofisiopatol, Serv Epilettol & Neurofisiopatol Pediat, Milan, Italy
[3] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neuroradiol Unit, Milan, Italy
[4] Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan, Unita Operat Neuropsichiat Infanzia & Adolescenza, Milan, Italy
来源：
PARKINSONISM & RELATED DISORDERS | 2018年 / 48卷
关键词：
NBIA; MPAN; C19orf12; Heterozygous mutation; De novo mutation; NEURODEGENERATION;
D O I：
10.1016/j.parkreldis.2017.12.025
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：109 / 111
页数：3
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