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Article

Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

Pediatric cardiology - 1 Jul 2008

Frazier Aisha, Judge Daniel P, Schulman Steven P, Johnson Nicole, Holmes Kathryn W, Murphy Anne M

Abstract excerpt

We report an African American family with hypertrophic cardiomyopathy in which an individual with severe disease has alterations in two sarcomeric protein genes, cardiac beta-myosin heavy chain (MYH7) and troponin I (TNNI3). Each of her children has only one of these mutations. Although novel, the MYH7 mutation disrupts a conserved amino acid, and other missense substitutions at this position are known to cause...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic, Familial

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Source

Identifiers

PMID: 18175163
DOI: 10.1007/s00246-007-9177-9

Genes

TNNI3
MYH7

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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