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De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Keller, Natalie; Paketci, Cem; Edem, Pinar; Thiele, Holger; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert.
  • Keller N; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Paketci C; Dokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
  • Edem P; Dokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
  • Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Yis U; Dokuz Eylül University, Department of Pediatric Neurology, Izmir, Turkey.
  • Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address: mert.karakaya@uk-koeln.de.
Eur J Med Genet ; 64(2): 104134, 2021 Feb.
Article en En | MEDLINE | ID: mdl-33387674
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular / Neuropatías Hereditarias Sensoriales y Autónomas / Dinaminas / Distonía Límite: Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular / Neuropatías Hereditarias Sensoriales y Autónomas / Dinaminas / Distonía Límite: Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article