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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?
Author(s) -
Carboni Nicola,
Marrosu Giovanni,
Porcu Maurizio,
Mateddu Anna,
Solla Elisabetta,
Cocco Eleonora,
Maioli Maria A.,
Oppo Valentina,
Piras Rachele,
Marrosu Maria G.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22228
Subject(s) - phenotype , laminin , mutation , medicine , cardiomyopathy , gene , genetics , pathology , biology , heart failure , cell
Patients 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