Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Pin-Shiuan Chen,Chi-Chao Chao,Li-Kai Tsai,Hsin-Yi Huang,Yin-Hsiu Chien,Pei-Hsin Huang,Wuh-Liang Hwu,Sung-Tsang Hsieh,Ni-Chung Lee,Hsueh-Wen Hsueh,Chih-Chao Yang

Journal of neuromuscular diseases（2023）

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摘要

It is essential to design genotype-guided molecular studies to correlate the identified variants with their clinical features. For patients who had negative findings from WES, acquired diseases, mitochondrial DNA disorders and microsatellite expansion diseases should be considered.

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Whole-exome sequencing,motor neuron disease,myopathy,neuromuscular disorders,neuropathy

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