K Tamura, T Santa, Y Kuroiwa. Show Affiliations »
Abstract
Entities: Disease
Mesh: See more » Acid Phosphatase/metabolismAdenosine Triphosphatases/metabolismAdultBlepharoptosis/geneticsDeglutition Disorders/geneticsFacial Paralysis/geneticsFemaleGlycogen/metabolismHearing Disorders/geneticsHumansLipid MetabolismMaleMicroscopy, ElectronMitochondria, Muscle/ultrastructureMuscles/enzymologyMuscles/metabolismMuscles/pathologyMuscles/ultrastructureMyofibrils/ultrastructureNADH, NADPH Oxidoreductases/metabolismNeuromuscular Diseases/geneticsNeuromuscular Diseases/metabolismNeuromuscular Diseases/pathologyOphthalmoplegia/geneticsOphthalmoplegia/metabolismOphthalmoplegia/pathologyPedigreeSpeech Disorders/geneticsSyndrome
Substances: See more » GlycogenNADH, NADPH OxidoreductasesAcid PhosphataseAdenosine Triphosphatases
Year: 1974 PMID: 4154795 DOI: 10.1093/brain/97.1.665
Source DB: PubMed Journal: Brain ISSN: 0006-8950 Impact factor: 13.501