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A progressive KY myopathy could be caused by a missense pathogenic variant.
Uhrova-Meszarosova, Anna; Vlckova, Marketa; Rennerova, Ladislava; Haberlova, Jana; Zamecnik, Josef; Seeman, Pavel; Safka-Brozkova, Dana.
Afiliación
  • Uhrova-Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
  • Vlckova M; Department of Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
  • Rennerova L; Child Neurology, Ústí nad Labem, Czech Republic.
  • Haberlova J; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
  • Zamecnik J; Department of Pathology and Molecular Medicine 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
  • Seeman P; Neurogenetic Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
  • Safka-Brozkova D; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czech Republic.
Clin Genet ; 103(6): 723-725, 2023 06.
Article en En | MEDLINE | ID: mdl-36683559
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Musculares Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: República Checa
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Musculares Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: República Checa