Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.
作者信息
Magariello A, Russo C, Citrigno L, Züchner S, Patitucci A, Mazzei R, Conforti F L, Ferlazzo E, Aguglia U, Muglia M
机构信息
Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy.
Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
出版信息
J Neurol Sci. 2017 Jan 15;372:347-349. doi: 10.1016/j.jns.2016.11.069. Epub 2016 Dec 5.
PMID:28017243
Abstract
摘要
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