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Article

Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

International journal of legal medicine - 1 Jan 2000

Sperhake J P, Matschke J, Orth U, Gal A, Püschel K

Abstract excerpt

A case of sudden death of a 52-year-old mentally retarded Caucasian male is described where the rectal temperature was 43.4 degrees C 3 h postmortem. The autopsy revealed cerebrotendinous xanthomatosis (CTX), a rare hereditary metabolic disorder, as the primary disease. The diagnosis was confirmed by postmortem identification of two mutations (compound heterozygosity for R237X and IVS6+1G-->A) in the sterol...

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Identifiers

PMID: 10741487
DOI: 10.1007/pl00007709

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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