DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECTS IN A PATIENT WITH PARTIAL MEROSIN DEFICIENCY DUE TO MUTATIONS IN THE LAMININ-alpha 2-CHAIN GENE: A CHANCE ASSOCIATION OR A NOVEL PHENOTYPE?

作者：Carboni Nicola^*; Marrosu Giovanni; Porcu Maurizio; Mateddu Anna; Solla Elisabetta; Cocco Eleonora; Maioli Maria A; Oppo Valentina; Piras Rachele; Marrosu Maria G

来源：Muscle & Nerve, 2011, 44(5): 826-828.

DOI：10.1002/mus.22228

• dilated cardiomyopathy with conduction defects
• partial merosin dficiency
• LAMA2 gene mutations

Patients with a partial reduction of merosin due to mutations in the laminin-alpha 2 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-a2 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 44: 826-828, 2011

• 出版日期2011-11