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[Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Akanuma J, Wataya K, Matsubara Y, Narisawa K

Abstract excerpt

Carnitine palmitoyltransferase II(CPTII) deficiency manifests as two different clinical phenotypes: an adult form associated with muscular symptoms and an infantile form presenting with hepatocardiomuscular manifestations. We have investigated three Japanese patients with CPT II deficiency. Molecular analysis revealed two novel missense mutations, a glutamate (174)-to-lyine substitution (E174K) and a...

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PMID: 9436454

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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