The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

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作者： Kirsty,Wadmore ^[1] ; Amar J,Azad ^[1] ; Katja,Gehmlich ^[1]

作者单位： Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK. ^[1] Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford OX3 9DU, UK. ^[2]

关键词 Z-disc alternatively spliced PDZ-motif (ZASP)cardiomyopathy filamin C missense variant myopalladin myopathy myotilin telethonin truncating variant α-actinin 2

主题词动物(Animals);心肌疾病(Cardiomyopathies);人类(Humans);模型, 生物学(Models, Biological);肌蛋白质类(Muscle Proteins);肌疾病(Muscular Diseases);突变(Mutation)

DOI 10.3390/ijms22063058

PMID 33802723

发布时间 2022-07-16

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