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Article

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

BMC neurology - 2 Mar 2021

Jiang Hui, Guo Chunmiao, Xie Jie, Pan Jingxin, Huang Ying, Li Miaoxin, Guo Yibin

Abstract excerpt

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 (WES) data can be used to diagnose patients with CMT disease efficiently. CASE PRESENTATION: The proband is a 29-year-old...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33653295
DOI: 10.1186/s12883-021-02093-z
PMCID: PMC7923504

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