MITOCHONDRIAL ENCEPHALOMYOPATHY WITH AUTOSOMAL-DOMINANT INHERITANCE -A CLINICAL AND GENETIC ENTITY OF MITOCHONDRIAL DISEASES

We report a Japanese family with chronic progressive external ophthalm oplegia (CPEO) with autosomal dominant inheritance, and review 54 repo rted CPEO patients in seven families (including the present family) wi th autosomal dominant inheritance and mtDNA deletions in the skeletal muscle. Mean age at onset in the CPEO was 26 years, which is older tha n that in published solitary cases. In addition to blepharoptosis and external ophthalmoplegia, proximal muscle atrophy and weakness were fo und in 62%, hearing loss in 25%, and ataxia in 17% of the patients. Re tinal degeneration was not found, and cardiac involvement was very rar e. mtDNA deletions in the muscle were multiple and large scale, and al l such deletions were located in the non-D-loop region. Autosomal domi nant CPEO has unique clinical features which differ from those of soli tary CPEO, and is associated with multiple large-scale mtDNA deletions . Thus, autosomal dominant CPEO can be considered a clinical and genet ic entity of mitochondrial diseases. (C) 1995 John Wiley and Sons, Inc .