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Article

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Amino acids - 1 Nov 2017

Tarnovskaya Svetlana, Kiselev Artem, Kostareva Anna, Frishman Dmitrij

Abstract excerpt

Idiopathic restrictive cardiomyopathy (RCM, MIM# 115210) is the least common type of cardiomyopathies, often of genetic origin. Recently we described a spectrum of variants-classified as pathogenic, likely pathogenic and variants of unknown significance-in 24 patients suffering from idiopathic RCM. Pathogenic variants, detected in half of the RCM cases, were found in sarcomeric and cytoskeletal genes that have a...

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PMID: 28831623
DOI: 10.1007/s00726-017-2480-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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