M Mancuso, M Filosto, M Hirano, S DiMauro. Show Affiliations »
Abstract
Entities: Disease Gene
Mesh: See more » ChildCreatine Kinase/metabolismCysteine/geneticsDNA, Mitochondrial/analysisDiagnosis, DifferentialElectromyography/methodsGlycine/geneticsHumansLactaseMitochondria, Muscle/metabolismMuscle, Skeletal/metabolismMuscular Atrophy, Spinal/geneticsMutationSuccinate Dehydrogenase/metabolismThymidine Kinase/geneticsbeta-Galactosidase/blood
Substances: See more » DNA, MitochondrialSuccinate Dehydrogenasethymidine kinase 2Thymidine KinaseCreatine KinaseLactasebeta-GalactosidaseCysteineGlycine
Year: 2003 PMID: 12687391 DOI: 10.1007/s00401-003-0699-9
Source DB: PubMed Journal: Acta Neuropathol ISSN: 0001-6322 Impact factor: 17.088