What is it about?
A siblings of brother and sister both presenting spastic paralysis. No consanguineous marriage of parents was reported. NGS of HSP related genes revealed the novel compound heterozygous ALS2 mutations in this siblings.
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Why is it important?
It's the first report of infantile ascending hereditary spastic paralysis in China.
Perspectives
It's the irst report of infantile ascending hereditary spastic paralysis in China, which showed the importance of NGS.
Dr Zhiding Cen
Second Affiliated Hospital, School of Medicine, Zhejiang University
Read the Original
This page is a summary of: Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis, Neurological Sciences, November 2014, Springer Science + Business Media,
DOI: 10.1007/s10072-014-2018-8.
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