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Article

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Molecular genetics and metabolism - 1 Jun 2003

Deschauer Marcus, Chrzanowska-Lightowlers Zofia M A, Biekmann Eckhard, Pourfarzam Morteza, Taylor Robert W, Turnbull Douglass M, Zierz Stephan

Abstract excerpt

We report the first splice junction mutation to be described in the carnitine palmitoyltransferase (CPT) 2 gene in a patient with the muscle form of CPT II deficiency. The patient, a 25-year-old man, suffered from attacks of myalgia and muscle weakness in early adult life. There was biochemical e...

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Share to Carnitine O-Palmitoyltransferase
Share to Metabolism, Inborn Errors
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splicing

Source

Identifiers

PMID: 12809643
DOI: 10.1016/s1096-7192(03)00067-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12809643-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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