Clinical characteristics and MTMR13/SBF2 gene mutation analysis of a Charcot - Marie-Tooth disease type 4B2 Chinese family

Clinical characteristics and MTMR13/SBF2 gene mutation analysis of a Charcot - Marie-Tooth disease type 4B2 Chinese family

Objective To explore the clinical features and genetic characteristics of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) patients. Methods MTMR13/SBF2 gene mutations were screened by target region capture sequencing among a CMT4B2 Chinese family which included 3 patients. Results Case 1 (the proband)...

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Bibliographic Details
Main Authors: Yu-ling ZHU, Huan LI, Zhi-liang PAN, Ying-yin LIANG, Jing LI, Ruo-jie HE, Jin-fu LIN, Cheng ZHANG
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2018-08-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Charcot-Marie-Tooth disease
Phenotype
Genes
Mutation
Pedigree
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1821

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/1821

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