Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin‐α2‐chain gene: A chance association or a novel phenotype?
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin‐α2‐chain gene: A chance association or a novel phenotype?
AbstractPatients with a partial reduction of merosin due to mutations in the laminin‐α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb‐girdle–like muscular dystrophy. To our knowledge, cardiac impairment has never been reported in such patients. A longitudinal study of a patient with partial laminin‐α2 deficiency secondary to mutations in the LAMA2 gene revealed dilated cardiomyopathy with ventricular arrhythmias. Is this a chance association or a novel phenotype? Muscle Nerve, 2011
- University of Cagliari Italy
Adult, Cardiomyopathy, Dilated, Male, Arrhythmias, Cardiac, Phenotype, Heart Conduction System, Mutation, Humans, Laminin, Longitudinal Studies
Adult, Cardiomyopathy, Dilated, Male, Arrhythmias, Cardiac, Phenotype, Heart Conduction System, Mutation, Humans, Laminin, Longitudinal Studies
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