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Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP
Autor:
Hilary S. McElligott, Aleksandra Laboski, Defne Magnetta, Alfred L. George, Elizabeth M. McNally, Amber E. Kofman, Gregory Webster, Nicoleta C. Arva, Meredith A Reynolds, Lisa Dellefave-Castillo, Megan J. Puckelwartz
Publikováno v:
Am J Med Genet A
Patients with biallelic mutations in the nuclear-encoded mitochondrial gene C1QBP/p32 have been described with syndromic features and autosomal recessive cardiomyopathy. We describe the clinical course in two siblings who developed cardiomyopathy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e50e14fe6155ec92589ff56f4bfb31d
https://doi.org/10.1002/ajmg.a.62262
https://doi.org/10.1002/ajmg.a.62262
