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

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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Bibliographic Details
Main Authors: Chang-Yu Xia, Yu Liu, Hui Liu, Yan-Chun Zhang, Yi-Nan Ma, Yu Qi
Format: Article
Language:English
Published: Wolters Kluwer 2016-01-01
Series:Chinese Medical Journal
Subjects:
Clinical Symptom; Heteroplasmy; Mitochondrial A3243G Mutation; Mitochondrial Disease
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=16;spage=1945;epage=1949;aulast=Xia

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http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=16;spage=1945;epage=1949;aulast=Xia

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