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Article

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Neurological research - 1 Jan 2011

Anichini Angelica, Fanin Marina, Vianey-Saban Christine, Cassandrini Denise, Fiorillo Chiara, Bruno Claudio, Angelini Corrado

Abstract excerpt

OBJECTIVES: The adult or 'muscular' form of carnitine-palmitoyl-transferase II (CPT II) deficiency presents with recurrent rhabdomyolytic episodes and myoglobinuria, usually triggered by prolonged exercise. The aim of this study was to investigate a large series of patients in order to provide genotype-phenotype correlations. METHODS: Our muscle tissue bank was surveyed for patients showing attacks of...

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Source

Identifiers

PMID: 20810031
DOI: 10.1179/016164110X12767786356390

Genes

CPT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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