Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel <i>DARS2</i> Mutation and Intra-Familial Heterogeneity.

Li, Jeng-Lin; Lee, Ni-Chung; Chen, Pin-Shiuan; Lee, Gin Hoong; Wu, Ruey-Meei

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.

Li, Jeng-Lin; Lee, Ni-Chung; Chen, Pin-Shiuan; Lee, Gin Hoong; Wu, Ruey-Meei.

Afiliação

Li JL; Department of Neurology National Taiwan University Hospital Taipei Taiwan.
Lee NC; Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan.
Chen PS; Department of Neurology National Taiwan University Hospital Taipei Taiwan.
Lee GH; Department of Neurology National Taiwan University Hospital Taipei Taiwan.
Wu RM; Department of Medical Education National Taiwan University Hospital Taipei Taiwan.

Mov Disord Clin Pract ; 8(7): 1116-1122, 2021 Oct.

Article em En | MEDLINE | ID: mdl-34631948

Palavras-chave

DARS2; aminoacyl tRNA synthetase; intrafamilial heterogeneity; leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mov Disord Clin Pract Ano de publicação: 2021 Tipo de documento: Article