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

@article{Balmer2005FamilialXC,
  title={Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene},
  author={Christian Balmer and Diana Ballhausen and Nils U. Bosshard and Beat Steinmann and Eugen Boltshauser and Urs Bauersfeld and Andrea Superti-Furga},
  journal={European Journal of Pediatrics},
  year={2005},
  volume={164},
  pages={509-514}
}
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 cardiomyopathy and died of its complications at 46 years of age. The combination of myopathy and cardiomyopathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree… CONTINUE READING