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A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement

Constantinos Papadopoulos,Kiriaki Kekou,Aris Anastasakis,Maria Svingou,Edoardo Malfatti,Corinne Metay,Margarita Chrysanthou, Christina Paschou,Dimitris Miliopoulos,Georgios Efthimiadis,Stamatios Adamopoulos,George Papadimas

MUSCLE & NERVE（2022）

引用 2|浏览13
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关键词
alpha-kinase 3,cardiomyopathy,myofibrillar disorganization,skeletal myopathy,vacuoles
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