title: Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia.
abstract: Mitochondrial diseases are a large group of disorders resulting from mutations of nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Patients present clinically with multiple manifestations, including myopathies and multiple system disorders. Establishing a specific diagnosis often requires extensive clinical and laboratory evaluation. In this study of 2 adult patients with presumptive mitochondrial disease, the authors have identified distinctive morphological changes in medial rectus muscle biopsies that confirm the diagnosis of chronic progressive external ophthalmoplegia (CPEO). These findings demonstrate the usefulness of electron microscopy using medial rectus muscle in the diagnosis of adult patients with a slowly progressive course of mild skeletal weakness and CPEO.
authors.affiliation: Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA.
authors.forename: Tee
authors.initials: T
authors.lastname: Lang
authors.forename: Nora
authors.initials: N
authors.lastname: Laver
authors.forename: Mitchell B
authors.initials: MB
authors.lastname: Strominger
authors.forename: Andre
authors.initials: A
authors.lastname: Witking
authors.forename: Rolf
authors.initials: R
authors.lastname: Pfannl
authors.forename: Joseph
authors.initials: J
authors.lastname: Alroy
mesh_terms: D000368:Aged; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D046529:Microscopy, Electron, Transmission / Q000379:methods; D008875:Middle Aged; D053142:Mitochondrial Size; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure*; D009154:Mutation; D009801:Oculomotor Muscles / Q000648:ultrastructure*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial