ABCC9-related Intellectual disability Myopathy Syndrome is a K<sub>ATP</sub> channelopathy with loss-of-function mutations in ABCC9.

Smeland, Marie F; McClenaghan, Conor; Roessler, Helen I; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H; Huang, Yan; Singareddy, Soma S; Gunn, Jamie; Wozniak, David F; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M; Bakkers, Jeroen; Remedi, Maria S; Van Ghelue, Marijke; Nichols, Colin G; van Haaften, Gijs

ABCC9-related Intellectual disability Myopathy Syndrome is a K_ATP channelopathy with loss-of-function mutations in ABCC9.

Smeland, Marie F; McClenaghan, Conor; Roessler, Helen I; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H; Huang, Yan; Singareddy, Soma S; Gunn, Jamie; Wozniak, David F; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M; Bakkers, Jeroen; Remedi, Maria S; Van Ghelue, Marijke; Nichols, Colin G; van Haaften, Gijs.

Afiliación

Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway. marie.smeland@unn.no.
McClenaghan C; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Roessler HI; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.
Savelberg S; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.
Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway.
Hjellnes H; Department of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway.
Arntzen KA; Department of Neurology, University Hospital of North Norway, 9019, Tromsø, Norway.
Müller KI; Department of Clinical Medicine, UiT-The Arctic University of Norway, 9019, Tromsø, Norway.
Dybesland AR; The National Neuromuscular Centre of Norway, University Hospital of North Norway, 9019, Tromsø, Norway.
Harter T; Department of Neurology, University Hospital of North Norway, 9019, Tromsø, Norway.
Sala-Rabanal M; Department of Clinical Medicine, UiT-The Arctic University of Norway, 9019, Tromsø, Norway.
Emfinger CH; The National Neuromuscular Centre of Norway, University Hospital of North Norway, 9019, Tromsø, Norway.
Huang Y; Department of Physiotherapy, University Hospital of North Norway, 9019, Tromsø, Norway.
Singareddy SS; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Gunn J; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Wozniak DF; Department of Anesthesiology, Washington University, St Louis, MO, 63110, USA.
Kovacs A; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Massink M; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Tessadori F; Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, China.
Kamel SM; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.
Bakkers J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Remedi MS; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Van Ghelue M; Department of Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Nichols CG; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.
van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands.

Nat Commun ; 10(1): 4457, 2019 10 01.

Article en En | MEDLINE | ID: mdl-31575858

Asunto(s)

Adenosina Trifosfato/metabolismo; Canalopatías/metabolismo; Predisposición Genética a la Enfermedad/genética; Discapacidad Intelectual/metabolismo; Enfermedades Musculares/metabolismo; Mutación; Receptores de Sulfonilureas/genética; Receptores de Sulfonilureas/metabolismo; Adolescente; Adulto; Secuencia de Aminoácidos; Animales; Cardiomegalia/genética; Cardiomegalia/metabolismo; Línea Celular; Niño; Modelos Animales de Enfermedad; Facies; Femenino; Enfermedades Genéticas Ligadas al Cromosoma X/genética; Corazón; Cardiopatías/genética; Cardiopatías/metabolismo; Homocigoto; Humanos; Hipertricosis/genética; Hipertricosis/metabolismo; Discapacidad Intelectual/parasitología; Masculino; Complejo Mediador/metabolismo; Proteínas de la Membrana/metabolismo; Ratones; Enfermedades Musculares/genética; Trastornos del Neurodesarrollo/genética; Trastornos del Neurodesarrollo/metabolismo; Trastornos del Neurodesarrollo/fisiopatología; Osteocondrodisplasias/genética; Osteocondrodisplasias/metabolismo; Linaje; Fenotipo; Rubidio; Secuenciación Completa del Genoma; Adulto Joven; Pez Cebra

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Adenosina Trifosfato / Predisposición Genética a la Enfermedad / Canalopatías / Receptores de Sulfonilureas / Discapacidad Intelectual / Enfermedades Musculares / Mutación Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: Noruega

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