Distal myopathies are a group of rare muscle disorders characterized by selective or predominant weakness in the feet and/or hands. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult-onset distal muscular dystrophy calling actininopathy and another distinctly different myopathy, named multiple structured core disease (MsCD). Thus, the various phenotypes and limited mutations in ACTN2-related myopathy make the genotype-phenotype correlation hard to understand.

中文翻译：

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一种新的移码 ACTN2 变体可导致罕见的多微核成人远端肌病

远端肌病是一组罕见的肌肉疾病，其特征是脚和/或手的选择性或主要无力。2019 年，ACTN2 基因首次被确定为一种新的成人型远端肌营养不良症（称为放线菌病）和另一种明显不同的肌病（称为多结构核心疾病（MsCD））的原因。因此，ACTN2 相关肌病的各种表型和有限的突变使得基因型-表型相关性难以理解。