Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dila...
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
About this item
Full title
Author / Creator
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. and Levitsky, Dmitrii I.
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 vent...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3146914667
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3146914667
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms252313059
