Article
Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
International journal of molecular sciences - 5 Dec 2024
Zaklyazminskaya Elena V, Nefedova Victoria V, Koubassova Natalia A, Kotlukova Natalia P, Kopylova Galina V, Kochurova Anastasia M, Shchepkin Daniil V, Ryabkova Natalia S, Katrukha Ivan A, Kleymenov Sergey Y, Bershitsky Sergey Y, Matyushenko Alexander M, Tsaturyan Andrey K, Levitsky Dmitrii I
Abstract excerpt
Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.Lys30Glu, K30E), in the TPM1 gene encoding the major cardiac muscle tropomyosin (Tpm) isoform, Tpm1.1. The variant was found in a proband with DCM and left ventricular non-compaction who progressed to terminal heart failure at...
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