Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy

Abstract Background Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present study, we explored how bioinformatics analysis on whole-exome sequencing...

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Bibliographic Details
Main Authors: Hui Jiang, Chunmiao Guo, Jie Xie, Jingxin Pan, Ying Huang, Miaoxin Li, Yibin Guo
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Neurology
Subjects:
Exome sequencing
Diagnosis
GDAP1
Charcot-Marie-tooth type 4A
Muscle atrophy
Case report
Online Access:https://doi.org/10.1186/s12883-021-02093-z

Internet

https://doi.org/10.1186/s12883-021-02093-z

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