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[DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity: report of two cases and review of literature].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2018

Zhang J, Liu M, Zhou L, Zhang Z B, Wang J M, Jiang Y W, Wu Y

Abstract excerpt

Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric department of Peking University First Hospital from January 2009 through December 2016 were reviewed and the 2 patients were...

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PMID: 29518832
DOI: 10.3760/cma.j.issn.0578-1310.2018.03.011

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