Familial X-linked cardiomyopathy (Danon disease) : diagnostic confirmation by mutation analysis of the LAMP2gene

A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation. During the course of the disease, his mother developed severe dilated cardiom...

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