Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.

Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations.

Methods: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise, was identified. LMNA gene analysis was applied to all family members.