Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy

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概要

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• A 44-year-old woman with mitochondrial encephalomyopathy noticed weakness of the lower extremities at the age of 30 years. She also has type 2 diabetes mellitus, posterior subcapsular cataracts in both eyes, and corpus callosum atrophy. Family history showed that a maternal cousin had a myopathy, 3 maternal aunts had diabetes mellitus, and her mother and 2 maternal aunts had cataracts. External ophthalmoplegia, proximal myopathy, and absent deep tendon reflexes were noted. The mitochondrial DNA 3243 point mutation was negative. Muscle biopsy showed ragged-red fibers, cytochrome c oxidase (COX)-positive fibers, and COX-negative fibers.

著者

• Goto Yu-ichi

  Department Of Child Neurology National Center Hospital For Mental Nervous And Musculardisorders Nati

• Nonaka Ikuya

  Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn

• Nishino Ichizo

  Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog

• Oishi Minoru

  Department Of Neurology Nihon University

• Fujioka Kazumi

  Department Of Radiology Nihon University School Of Medicine

• Miki Kenji

  Department Of Biomolecular Engineering Graduate School Of Bioscience And Biotechnology Tokyo Institu

• Mizutani Tomohiko

  Division Of Neurology Department Of Medicine Nihon University School Of Medicine

• Aoki Shigeki

  Department Of Hepato-biliary-pancreatic Surgery Tokyo Medical And Dental University

• Nonaka Ikuya

  Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry

• Morita Akihiko

  Department of Neurology, Nihon University Nerima Hikarigaoka Hospital

• Miki Kenji

  Department of Neurology, Nihon University Nerima Hikarigaoka Hospital

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