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Article

Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 2005

Rafay Mubeen F, Murphy E Gordon, McGarry J Denis, Kaufmann Petra, DiMauro Salvatore, Tein Ingrid

Abstract excerpt

BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic. METHODS: We correlate the clinical, biochemical and molecular features of a family in which the proband is homozygous for CPT II deficiency, due to the common Ser 113 Leu mutation. RESULTS: The 20-year-old female proband presented...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16225172
DOI: 10.1017/s0317167100004194

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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