'Behr syndrome' with OPA1 compound heterozygote mutations.
作者信息
Carelli Valerio, Sabatelli Mario, Carrozzo Rosalba, Rizza Teresa, Schimpf Simone, Wissinger Bernd, Zanna Claudia, Rugolo Michela, La Morgia Chiara, Caporali Leonardo, Carbonelli Michele, Barboni Piero, Tonon Caterina, Lodi Raffaele, Bertini Enrico
机构信息
1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
3 Institute of Neurology, Catholic University, Rome, Italy.
出版信息
Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21.
Abstract
摘要
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