Article
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Neuromuscular disorders : NMD - 1 Dec 2007
Musumeci Olimpia, Aguennouz Mohammed, Comi Giacomo Pietro, Rodolico Carmelo, Autunno Massimo, Bordoni Andreina, Baratta Silvia, Taroni Franco, Vita Giuseppe, Toscano Antonio
Abstract excerpt
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...
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