Article
[Sudden death at young age and the importance of molecular-pathologic investigation].
Nederlands tijdschrift voor geneeskunde - 16 Jul 2005
Wilde A A M, van Langen I M, Mannens M M A M, Waalewijn R A, Maes A
Abstract excerpt
The autopsy of a 16-year-old boy who had died suddenly revealed hypertrophic cardiomyopathy (HCM). Molecular genetic investigation revealed mutations in the MYBPC3 gene. His surviving family members could then be examined and reassured that they did not carry the mutation. An 18-year-old boy who died suddenly turned out to have known HCM. No further investigations were done and no tissue was saved. Genetic...
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