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POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips, Jade; Courel, Steve; Rebelo, Adriana P; Bis-Brewer, Dana M; Bardakjian, Tanya; Dankwa, Lois; Hamedani, Ali G; Züchner, Stephan; Scherer, Steven S.
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  • Phillips J; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Courel S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida.
  • Rebelo AP; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida.
  • Bis-Brewer DM; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida.
  • Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Dankwa L; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Hamedani AG; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Züchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida.
  • Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
J Peripher Nerv Syst ; 24(2): 213-218, 2019 06.
Article en En | MEDLINE | ID: mdl-30843307
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15. The other patient had a complex phenotype that included early onset axonal Charcot-Marie-Tooth disease (CMT) caused by compound heterozygous c.926G>A (p.Arg309His) and c.2209G>C (p.Gly737Arg) mutations.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Enfermedades del Sistema Nervioso Periférico / ADN Polimerasa gamma / Mutación / Conducción Nerviosa Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans / Middle aged Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Enfermedades del Sistema Nervioso Periférico / ADN Polimerasa gamma / Mutación / Conducción Nerviosa Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans / Middle aged Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article