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?

MUSCLE & NERVE(2011)

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摘要
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
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关键词
dilated cardiomyopathy with conduction defects, partial merosin dficiency, LAMA2 gene mutations
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