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Mitochondrial Myopathies, Chronic Progressive External Ophthalmoparesis, and Kearns-Sayre Syndrome

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Diagnosis and Management of Mitochondrial Disorders

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Abstract

Primary mitochondrial myopathies (PMM) have been defined as genetically determined disorders leading to defects of oxidative phosphorylation and affecting predominantly, but not exclusively, skeletal muscle. Manifestations lead from isolated mitochondrial myopathy to chronic progressive external ophthalmoparesis and Kearns-Sayre syndrome. In contrast to many other mitochondrial disorders, diagnosis still requires the morphological and genetic workup of a muscle biopsy which also is very helpful in differential diagnosis. The exact identification of the underlying genetic cause is a prerequisite for appropriate genetic counselling in affected families. While disease-modifying therapies are in development, many symptom management approaches including ptosis surgery are already available to improve activities of daily living and quality of life.

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Authors and Affiliations

  1. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

  2. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

    Thomas Klopstock

  3. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

    Thomas Klopstock

  4. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

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  1. Thomas Klopstock
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  2. Michelangelo Mancuso
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Correspondence to Thomas Klopstock .

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Editors and Affiliations

  1. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  2. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

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Klopstock, T., Mancuso, M. (2019). Mitochondrial Myopathies, Chronic Progressive External Ophthalmoparesis, and Kearns-Sayre Syndrome. In: Mancuso, M., Klopstock, T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-05517-2_9

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  • DOI: https://doi.org/10.1007/978-3-030-05517-2_9

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  • Online ISBN: 978-3-030-05517-2

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