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Article

Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.

Laboratory medicine - 6 Jan 2024

Mahdavi Mohammad, Mohsen-Pour Neda, Maleki Majid, Ghasemi Serwa, Tabib Avisa, Houshmand Golnaz, Naderi Niloofar, Masoumi Tannaz, Pouraliakbar Hamidreza, Kalayinia Samira

Abstract excerpt

OBJECTIVE: We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM). BACKGROUND: A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families. METHODS: Whole-exome sequencing (WES) was performed to assess the genetic...

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Identifiers

PMID: 37246508
DOI: 10.1093/labmed/lmad038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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