Abstract
Carnitine palmitoyltransferase 2 (CPT2) deficiency is the most common defect of mitochondrial fatty acid oxidation; three different clinical phenotypes have been described but the adult form, involving exclusively the skeletal muscle, is the most frequent. We describe herein 3 families where 4 individuals manifested with the adult form of CPT2 deficiency. CPT2 gene molecular analysis identified the homozygous R631C mutation, so far only reported in severe infantile cases. Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings indirectly suggest that other modulators may influence clinical severity of CPT2 deficiency.
Original language | English |
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Pages (from-to) | 960-963 |
Number of pages | 4 |
Journal | Neuromuscular Disorders |
Volume | 17 |
Issue number | 11-12 |
DOIs | |
Publication status | Published - Dec 2007 |
Keywords
- CPT2 deficiency
- Metabolic myopathy
- R631C mutation
- Rhabdomyolysis
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology