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A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
Cámara-Checa A, Perin F, Rubio-Alarcón M, Dago M, Crespo-García T, Rapún J, Marín M, Cebrián J, Gómez R, Bermúdez-Jiménez F, Monserrat L, Tamargo J, Caballero R, Jiménez-Jáimez J, Delpón E. Cámara-Checa A, et al. Among authors: perin f. Proc Natl Acad Sci U S A. 2023 Dec 5;120(49):e2305135120. doi: 10.1073/pnas.2305135120. Epub 2023 Nov 30. Proc Natl Acad Sci U S A. 2023. PMID: 38032931 Free PMC article.
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Blanco-Arias P, Medina Martínez I, Arrabal Fernández L, Rivas Infante E, Salmerón Fernández MJ, González Hervás C, Azcón González de Aguilar P, Armengol L, Pedrinaci S, Perin F. Blanco-Arias P, et al. Among authors: perin f. Neuromuscul Disord. 2023 Jul;33(7):557-561. doi: 10.1016/j.nmd.2023.05.008. Epub 2023 May 23. Neuromuscul Disord. 2023. PMID: 37329680
133 results