Neuromuscular Disorders
Volume 18, Issue 3 , Pages 259-267 , March 2008

155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands

  • Patrick F. Chinnery

      Affiliations

    • Mitochondrial Research Group and Institutes of Neuroscience and Human Genetics, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 191 222 8334; fax: +44 191 222 8553.
    • ,
  • Massimo Zeviani

      Affiliations

    • Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, Foundation “C. Besta” Neurological Institute – IRCCS, Milan, Italy

Received 15 October 2007

  • Image Result

    The spectrum of phenotypes in patients with pathogenic POLG mutations. MIRAS, mitochondrial recessive ataxia syndrome; ar, autosomal recessive; ad, autosomal dominant; PEO, progressive external ophtha

    The spectrum of phenotypes in patients with pathogenic POLG mutations. MIRAS, mitochondrial recessive ataxia syndrome; ar, autosomal recessive; ad, autosomal dominant; PEO, progressive external ophthalmoplegia.

  • Image Result
    Diagnostic approach in suspected POLG disease in children and adults (OXPHOS, biochemical studies of oxidative phosphorylation complexes).

    Diagnostic approach in suspected POLG disease in children and adults (OXPHOS, biochemical studies of oxidative phosphorylation complexes).

PII: S0960-8966(07)00762-6

doi: 10.1016/j.nmd.2007.11.005

Neuromuscular Disorders
Volume 18, Issue 3 , Pages 259-267 , March 2008

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