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Article

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Human mutation - 1 Jan 1999

Taggart R T, Smail D, Apolito C, Vladutiu G D

Abstract excerpt

The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their b...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10090476
DOI: 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0

Genes

CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10090476-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Novel mutations associated with carnitine palmitoyltransferase II deficiency.PMID 10090476Read ↗

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