title: Mitochondrial DNA deletion in oculoskeletal myopathy.
abstract: The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The diagnosis of Kearns-Sayre syndrome was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except short stature. The analysis of mitochondrial DNA of the patient's muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The deletion, undetectable in the mitochondrial DNA of peripheral blood leukocytes, was apparently indistinguishable from that already described by others in a far more severe form of classic Kearns-Sayre syndrome.
authors.affiliation: Department of Neurology, University of Modena, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Merelli
authors.forename: L
authors.initials: L
authors.lastname: Selleri
authors.forename: S
authors.initials: S
authors.lastname: Ferrari
authors.forename: P
authors.initials: P
authors.lastname: Sola
authors.forename: A
authors.initials: A
authors.lastname: Colombo
authors.forename: G
authors.initials: G
authors.lastname: Torelli
mesh_terms: D000328:Adult; D001345:Autoradiography; D015139:Blotting, Southern; D001827:Body Height; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000032:analysis*; D003680:Deglutition Disorders; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial