PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
January 1, 2004Annals of MedicineOpen Access

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes

View Full Paper
Ask AI
Bookmark
Share

Population

35 unrelated patients with hypertrophic cardiomyopathy from the Kuopio University Hospital area in eastern…

Design

Cross-sectional

Authors

PJPertti JääskeläinenRMRaija MiettinenPKPäivi Kärkkäinen

Discussion

Loading...

Member takes

Overview

May inform targeted genetic testing in eastern Finland; leaves open generalizability of benign phenotypes to other populations.

Structured PICO

P
Population
35 unrelated patients with hypertrophic cardiomyopathy (HCM) from the Kuopio University Hospital area in eastern Finland
I
Intervention
Genetic screening for variants in 9 genes encoding sarcomeric proteins using the PCR-SSCP method
O
Outcome
Frequency and type of mutations in 9 sarcomeric genes and their phenotypic expression

In eastern Finland, hypertrophic cardiomyopathy is predominantly caused by a few founder mutations in sarcomeric genes, particularly MYBPC3, which are associated with relatively benign clinical phenotypes.

Cite This Study

Jääskeläinen et al. (2004) studied this question.

synapsesocial.com/papers/6a954133d44cea3cdd829611https://doi.org/10.1080/07853890310017161
View Full Paper
Ask AI
Bookmark
Share