title: 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?
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?
authors: Neuromuscular Unit, Multiple Sclerosis Centre, University of Cagliari, Via is Guadazzonis, Cagliari 09124, Italy. nikola.carboni@tiscali.it
authors: Nicola
authors: N
authors: Carboni
authors: Giovanni
authors: G
authors: Marrosu
authors: Maurizio
authors: M
authors: Porcu
authors: Anna
authors: A
authors: Mateddu
authors: Elisabetta
authors: E
authors: Solla
authors: Eleonora
authors: E
authors: Cocco
authors: Maria A
authors: MA
authors: Maioli
authors: Valentina
authors: V
authors: Oppo
authors: Rachele
authors: R
authors: Piras
authors: Maria G
authors: MG
authors: Marrosu
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006329:Heart Conduction System / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007797:Laminin / Q000172:deficiency* / Q000235:genetics; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D007797:Laminin; C102645:laminin alpha 2