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

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) d...

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Detalles Bibliográficos
Autores principales:	Jiang, Hui, Guo, Chunmiao, Xie, Jie, Pan, Jingxin, Huang, Ying, Li, Miaoxin, Guo, Yibin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923504/ https://www.ncbi.nlm.nih.gov/pubmed/33653295 http://dx.doi.org/10.1186/s12883-021-02093-z

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