Article

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations

2021-06-04

Abstract excerpt

<h4>Objective: </h4> Spinal muscular atrophy, lower limb-dominant (SMA-LED), and Charcot-Marie-Tooth type 2O (CMT2O) are two kinds of familial neuromuscular diseases. In this study, we reported two patients with CMT2O caused by DYNC1H1 mutations and further analyzed the genotype-phenotype correlations. <h4>Methods:</h4> Two CMT2O patients and their parents’ clinical data were collected and genetic analysis was app...

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Literature Corpus work: 0d2f9807-fae7-504e-a2be-9a8c91ff5f85
DOI: 10.22541/au.162281628.89366797/v1

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