title: Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.
abstract: We report a Japanese family with chronic progressive external ophthalmoplegia (CPEO) with autosomal dominant inheritance, and review 54 reported CPEO patients in seven families (including the present family) with autosomal dominant inheritance and mtDNA deletions in the skeletal muscle. Mean age at onset in the CPEO was 26 years, which is older than that in published solitary cases. In addition to blepharoptosis and external opthalmoplegia, proximal muscle atrophy and weakness were found in 62%, hearing loss in 25%, and ataxia in 17% of the patients. Retinal degeneration was not found, and cardiac involvement was very rare. mtDNA deletions in the muscle were multiple and large scale, and all such deletions were located in the non-D-loop region. Autosomal dominant CPEO has unique clinical features which differ from those of solitary CPEO, and is associated with multiple large-scale mtDNA deletions. Thus, autosomal dominant CPEO can be considered a clinical and genetic entity of mitochondrial diseases.
authors.affiliation: First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kawai
authors.forename: M
authors.initials: M
authors.lastname: Akaike
authors.forename: K
authors.initials: K
authors.lastname: Yokoi
authors.forename: Y
authors.initials: Y
authors.lastname: Nishida
authors.forename: M
authors.initials: M
authors.lastname: Kunishige
authors.forename: H
authors.initials: H
authors.lastname: Mine
authors.forename: S
authors.initials: S
authors.lastname: Saito
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000503:physiopathology; D008969:Molecular Sequence Data; D009886:Ophthalmoplegia / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial