title: Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.
abstract: We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.
authors.affiliation: Neurogenetics Unit, Hospital JM Ramos Mejia, Buenos Aires, Argentina.
authors.forename: Dolores
authors.initials: D
authors.lastname: Gonzalez-Moron
authors.forename: Jose
authors.initials: J
authors.lastname: Bueri
authors.forename: Marcelo Andres
authors.initials: MA
authors.lastname: Kauffman
mesh_terms: D004265:DNA Helicases / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D009157:Myasthenia Gravis / Q000175:diagnosis*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics
chemical_list: D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human