Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation

We report three patients with bilateral lower limb weakness as the initial symptom. Case 1 presented at 37 years old with bilateral lower limb weakness. The condition gradually worsened, eventually leading to wheelchair dependence. He later sought medical attention for heart failure. Echocardiograph...

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Bibliographic Details
Main Authors: Liuyang Wang, Dongyue Yue, Zijun Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Cardiovascular Medicine
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Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1590306/full
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