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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
Yoon, Grace; Malam, Zeenat; Paton, Tara; Marshall, Christian R; Hyatt, Ella; Ivakine, Zhenya; Scherer, Stephen W; Lee, Kyong-Soon; Hawkins, Cynthia; Cohn, Ronald D.
Afiliação
  • Yoon G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address
  • Malam Z; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Paton T; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marshall CR; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hyatt E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ivakine Z; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; The Center for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Lee KS; Division of Neonatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Hawkins C; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Cohn RD; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Pediatr ; 171: 313-6.e1-2, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26825290
We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Dinâmica Mitocondrial / GTP Fosfo-Hidrolases / Proteínas Associadas aos Microtúbulos / Mutação Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Dinâmica Mitocondrial / GTP Fosfo-Hidrolases / Proteínas Associadas aos Microtúbulos / Mutação Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos