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Article

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.

Muscle & nerve - 1 Jul 1999

Vladutiu G D

Abstract excerpt

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exercise-induced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II...

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Source

Identifiers

PMID: 10398218
DOI: 10.1002/(sici)1097-4598(199907)22:7<949::aid-mus23>3.0.co;2-i

Genes

CPT2

Provenance

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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