title: Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
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.
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Italy.
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Mohammed
authors.initials: M
authors.lastname: Aguennouz
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Massimo
authors.initials: M
authors.lastname: Autunno
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Silvia
authors.initials: S
authors.lastname: Baratta
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: D005819:Genetic Markers; D002334:Carnitine O-Palmitoyltransferase