Article
Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Heart rhythm - 1 Mar 2022
Zhang Yike, Lin Yongping, Zhang Yanjuan, Wang Yuanqing, Li Zhaomin, Zhu Yue, Liu Hailei, Ju Weizhu, Cui Chang, Chen Minglong
Abstract excerpt
BACKGROUND: The literature on laminopathy with ventricular phenotype is extensive. However, the pathogenicity of LMNA variations in atrial lesions still lacks research. OBJECTIVE: The purpose of this study was to characterize the atrial phenotypes and possible mechanisms in a large Chinese family with heart-hand syndrome carrying a LMNA missense variant in rod 2B domain (c.1003C>T p.R335W). METHODS: Clinical...
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