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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Woods, Jeremy D; Khanlou, Negar; Lee, Hane; Signer, Rebecca; Shieh, Perry; Chen, Johnathan; Herzog, Matthew; Palmer, Christina; Martinez-Agosto, Julian; Nelson, Stanley F.
Afiliación
  • Woods JD; Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.
  • Khanlou N; Department of Pathology, University of California Los Angeles, Los Angeles, California, USA.
  • Lee H; Department of Pathology, University of California Los Angeles, Los Angeles, California, USA.
  • Signer R; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Shieh P; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Chen J; Department of Neurology, University of California Los Angeles, Los Angeles, California, USA.
  • Herzog M; Department of Radiology, University of California Los Angeles, Los Angeles, California, USA.
  • Palmer C; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Martinez-Agosto J; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Nelson SF; Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.
Neuropathology ; 40(3): 302-307, 2020 Jun.
Article en En | MEDLINE | ID: mdl-32037607
ABSTRACT
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedades Musculares Tipo de estudio: Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuropathology Asunto de la revista: NEUROLOGIA / PATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro / Enfermedades Musculares Tipo de estudio: Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuropathology Asunto de la revista: NEUROLOGIA / PATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos