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Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations

BACKGROUND: Leigh syndrome (LS) is a rare disease caused by mitochondrial defects and has high phenotypic and genotypic heterogeneity. We analyzed the clinical symptoms, neuroimaging, muscular histopathology, and genotypes of 13 Chinese LS patients with mitochondrial DNA (mtDNA) mutations. METHODS:...

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Detalles Bibliográficos
Autores principales: Yu, Xiao-Lin, Yan, Chuan-Zhu, Ji, Kun-Qian, Lin, Peng-Fei, Xu, Xue-Bi, Dai, Ting-Jun, Li, Wei, Zhao, Yu-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247594/
https://www.ncbi.nlm.nih.gov/pubmed/30425197
http://dx.doi.org/10.4103/0366-6999.245265