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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn, Maike F; Heller, Corina; Zengeler, Diana; Obermaier, Carolin D; Biskup, Saskia; Weis, Joachim; Nikolin, Stefan; Claeys, Kristl G; Schöne, Ulrike; Beijer, Danique; Winter, Natalie; Achenbach, Pascal; Gess, Burkhard; Schulz, Jörg B; Mulahasanovic, Lejla.
Afiliação
  • Dohrn MF; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany. mdohrn@ukaachen.de.
  • Heller C; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA. mdohrn@ukaachen.de.
  • Zengeler D; Praxis Für Humangenetik Tübingen, Tuebingen, Germany.
  • Obermaier CD; CeGaT GmbH, Tuebingen, Germany.
  • Biskup S; Praxis Für Humangenetik Tübingen, Tuebingen, Germany.
  • Weis J; CeGaT GmbH, Tuebingen, Germany.
  • Nikolin S; Praxis Für Humangenetik Tübingen, Tuebingen, Germany.
  • Claeys KG; CeGaT GmbH, Tuebingen, Germany.
  • Schöne U; Praxis Für Humangenetik Tübingen, Tuebingen, Germany.
  • Beijer D; CeGaT GmbH, Tuebingen, Germany.
  • Winter N; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Achenbach P; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Gess B; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Schulz JB; Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium.
  • Mulahasanovic L; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Neurol Res Pract ; 4(1): 5, 2022 Feb 01.
Article em En | MEDLINE | ID: mdl-35101151
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Res Pract Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Res Pract Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha