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Article

[Same genotype and different phenotypes in a family with PRKAG2 gene mutation].

Zhonghua xin xue guan bing za zhi - 1 Jun 2007

Hong Kui, Oliva Antonio, Cheng Xiao-shu, Brugada Pedro, Brugada Joseph, Sternick Eduardo-back, Brugada Ramon

Abstract excerpt

OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation. METHOD: Direct DNA sequence was...

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Source

Identifiers

PMID: 17711718

Genes

PRKAG2

Provenance

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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