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The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Myasnikov R, Brodehl A, Meshkov A, Kulikova O, Kiseleva A, Pohl GM, Sotnikova E, Divashuk M, Klimushina M, Zharikova A, Pokrovskaya M, Koretskiy S, Kharlap M, Mershina E, Sinitsyn V, Basargina E, Gandaeva L, Barskiy V, Boytsov S, Milting H, Drapkina O. Myasnikov R, et al. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. Brodehl A, et al. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.