Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.
作者信息
DeJesus-Hernandez M, Desaro P, Johnston A, Ross O A, Wszolek Z K, Ertekin-Taner N, Graff-Radford N R, Rademakers R, Boylan K
机构信息
Department of Neuroscience, Mayo Clinic, Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
出版信息
Neurology. 2011 Sep 13;77(11):1102-3. doi: 10.1212/WNL.0b013e31822e563c. Epub 2011 Aug 31.
Abstract
摘要
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Exome sequencing reveals VCP mutations as a cause of familial ALS.外显子组测序揭示 VCP 突变是家族性 ALS 的病因。
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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.与骨Paget病和额颞叶痴呆相关的包涵体肌病由含缬酪肽蛋白突变体引起。
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