A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia-MedSci.cn

A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia

Ban, R; Pu, CQ; Fang, F; Shi, Q

Fang, F (corresponding author), Capital Med Univ, Dept Neurol, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Beijing, Peoples R China.; Shi, Q (corresponding author), Chinese Peoples Liberat Army Gen Hosp, Dept Neurol, Med Ctr 1, Beijing, Peoples R China.

Abstract

SPG78 is a subtype of hereditary spastic paraplegia(HSP) caused by ATP13A2 gene mutations. SPG78 was reported as complicated HSP in several cases, but......

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A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia

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