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Article

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).

Molecular genetics and metabolism - 1 Jul 2022

Gangfuß Andrea, Hentschel Andreas, Heil Lorena, Gonzalez Maria, Schönecker Anne, Depienne Christel, Nishimura Anna, Zengeler Diana, Kohlschmidt Nicolai, Sickmann Albert, Schara-Schmidt Ulrike, Fürst Dieter O, van der Ven Peter F M, Hahn Andreas, Roos Andreas, Schänzer Anne

Abstract excerpt

Popeye domain containing protein 1 (POPDC1) is a highly conserved transmembrane protein essential for striated muscle function and homeostasis. Pathogenic variants in the gene encoding POPDC1 (BVES, Blood vessel epicardial substance) are causative for limb-girdle muscular dystrophy (LGMDR25), associated with cardiac arrhythmia. We report on four affected children (age 7-19 years) from two consanguineous families...

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PMID: 35660068
DOI: 10.1016/j.ymgme.2022.05.005

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