Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3081203 | Neuromuscular Disorders | 2007 | 4 Pages |
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.
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Authors
Olimpia Musumeci, Mohammed Aguennouz, Giacomo Pietro Comi, Carmelo Rodolico, Massimo Autunno, Andreina Bordoni, Silvia Baratta, Franco Taroni, Giuseppe Vita, Antonio Toscano,