| Literature DB >> 22006699 |
Nicola Carboni1, Giovanni Marrosu, Maurizio Porcu, Anna Mateddu, Elisabetta Solla, Eleonora Cocco, Maria A Maioli, Valentina Oppo, Rachele Piras, Maria G Marrosu.
Abstract
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?Entities:
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Year: 2011 PMID: 22006699 DOI: 10.1002/mus.22228
Source DB: PubMed Journal: Muscle Nerve ISSN: 0148-639X Impact factor: 3.217