A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement.
作者信息
Papadopoulos Constantinos, Kekou Kiriaki, Anastasakis Aris, Svingou Maria, Malfatti Edoardo, Metay Corinne, Chrysanthou Margarita, Paschou Christina, Miliopoulos Dimitris, Efthimiadis Georgios, Adamopoulos Stamatios, Papadimas George
机构信息
Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
出版信息
Muscle Nerve. 2022 Mar;65(3):E7-E10. doi: 10.1002/mus.27471. Epub 2021 Dec 16.
PMID:34862804
Abstract
摘要
Zotero 插件