Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10742409 | Journal of the Neurological Sciences | 2005 | 4 Pages |
Abstract
Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
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Authors
Monica Sciacco, Alessandro Prelle, Gigliola Fagiolari, Andreina Bordoni, Marco Crimi, Alessio Di Fonzo, Patrizia Ciscato, Costanza Lamperti, Elisabetta D'Adda, Stefano Jann, Nereo Bresolin, Giacomo P. Comi, Maurizio Moggio,