April 21, 2004European Heart JournalOpen Access

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy

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Structured PICO

Population

18 well-characterised familial dilated cardiomyopathy (DCM) patients from eastern and southern Finland and 72 sporadic DCM patients from eastern Finland (n=90)

Intervention

Screening of all 12 exons of the lamin A/C gene using the PCR-SSCP method

Outcome

Detection of mutations in the lamin A/C gene and associated clinical phenotype

The novel S143P mutation in the lamin A/C gene is common among Finnish DCM patients and is associated with severe heart failure and progressive atrioventricular conduction defects, warranting genetic screening in this population.

Discussion

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Implication

May support targeted lamin A/C screening in Finnish DCM families; extends known mutation phenotypes but leaves broader applicability open.

Cite This Study

Satu Kärkkäinen (2004) studied this question.

synapsesocial.com/papers/6a7170ea6c240de38cdc240d https://doi.org/10.1016/j.ehj.2004.01.020

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Implication

May support targeted lamin A/C screening in Finnish DCM families; extends known mutation phenotypes but leaves broader applicability open.

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy

Structured PICO

Discussion

Implication

Cite This Study

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider