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Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.

Molecular genetics & genomic medicine - 1 Jan 2024

Sun Qiqing, Xie Zhenhua, Wang Fangjie, Guo Jun, Yan Xiaochen

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a patient with long QT syndrome type 14 (long QT syndrome-14, LQT14, OMIM # 616247) caused by a de novo CALM1 mutation. METHODS: The clinical data of the patient were collected, next-generation sequencing technology was used to determine the exome gene sequence of the patient, and the suspected pathogenic locus was verified by Sanger sequencing....

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Identifiers

PMID: 37905352
DOI: 10.1002/mgg3.2287
PMCID: PMC10767591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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