Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia gene 7 (SPG7) account for about 5–21% of...

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Bibliographic Details
Main Authors: Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia, Hongge Li
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Neurology
Subjects:
Hereditary spastic paraplegias
Compound heterozygous SPG7 mutations
Genetic diagnosis
Next generation sequencing
Paraplegin
Online Access:http://link.springer.com/article/10.1186/s12883-018-1199-9

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http://link.springer.com/article/10.1186/s12883-018-1199-9

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