Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia.
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.
Lang
Tee
T
Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA.
Laver
Nora
N
Strominger
Mitchell B
MB
Witking
Andre
A
Pfannl
Rolf
R
Alroy
Joseph
J
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
D004272:DNA, Mitochondrial