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Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA

BACKGROUND: Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements. Variable clinical features present a major challenge in pediatric diagnoses. We summarized the clinical spectrum of m.3243A>G mutation in Chinese pediatric patients, to define the common cl...

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Detalles Bibliográficos
Autores principales: Xia, Chang-Yu, Liu, Yu, Liu, Hui, Zhang, Yan-Chun, Ma, Yi-Nan, Qi, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989426/
https://www.ncbi.nlm.nih.gov/pubmed/27503020
http://dx.doi.org/10.4103/0366-6999.187845