痉挛性截瘫7型患者的扩展表型
Expanded phenotype in a patient with spastic paraplegia 7.
作者信息
Gass Jennifer, Blackburn Patrick R, Jackson Jessica, Macklin Sarah, van Gerpen Jay, Atwal Paldeep S
机构信息
Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Department of Clinical Genomics Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
出版信息
Clin Case Rep. 2017 Aug 24;5(10):1620-1622. doi: 10.1002/ccr3.1109. eCollection 2017 Oct.
Abstract
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in .
摘要
遗传性痉挛性截瘫是一组临床和遗传异质性神经退行性疾病，通常以下肢无力和痉挛为特征。在我们的研究中，我们描述了一名7型痉挛性截瘫患者，其表型有所扩展，在发现致病变异后被确诊。
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