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Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
McMillan, Hugh J; Marshall, Aren E; Venkateswaran, Sunita; Hartley, Taila; Warman-Chardon, Jodi; Ramani, Arun K; Marshall, Christian R; Michaud, Jean; Boycott, Kym M; Dyment, David A; Kernohan, Kristin D.
Afiliación
  • McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Venkateswaran S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
  • Ramani AK; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Clin Genet ; 99(5): 746-748, 2021 05.
Article en En | MEDLINE | ID: mdl-33576074
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cerebelo / Miopatías Estructurales Congénitas / Fosfolipasas A2 Grupo VI / Mutación Límite: Adolescent / Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cerebelo / Miopatías Estructurales Congénitas / Fosfolipasas A2 Grupo VI / Mutación Límite: Adolescent / Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Canadá