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

ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with...

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Autores principales:	Marie F. Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/3b16521767fb4e02b8c29af4d1962611
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spelling	oai:doaj.org-article:3b16521767fb4e02b8c29af4d19626112021-12-02T17:01:40ZABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC910.1038/s41467-019-12428-72041-1723https://doaj.org/article/3b16521767fb4e02b8c29af4d19626112019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12428-7https://doaj.org/toc/2041-1723ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with loss of KATP channel function.Marie F. SmelandConor McClenaghanHelen I. RoesslerSanne SavelbergGeir Åsmund Myge HansenHelene HjellnesKjell Arne ArntzenKai Ivar MüllerAndreas Rosenberger DybeslandTheresa HarterMonica Sala-RabanalChris H. EmfingerYan HuangSoma S. SingareddyJamie GunnDavid F. WozniakAttila KovacsMaarten MassinkFederico TessadoriSarah M. KamelJeroen BakkersMaria S. RemediMarijke Van GhelueColin G. NicholsGijs van HaaftenNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Marie F. Smeland Conor McClenaghan Helen I. Roessler Sanne Savelberg Geir Åsmund Myge Hansen Helene Hjellnes Kjell Arne Arntzen Kai Ivar Müller Andreas Rosenberger Dybesland Theresa Harter Monica Sala-Rabanal Chris H. Emfinger Yan Huang Soma S. Singareddy Jamie Gunn David F. Wozniak Attila Kovacs Maarten Massink Federico Tessadori Sarah M. Kamel Jeroen Bakkers Maria S. Remedi Marijke Van Ghelue Colin G. Nichols Gijs van Haaften ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
description	ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and cardiac systolic dysfunction which is associated with loss of KATP channel function.
format	article
author	Marie F. Smeland Conor McClenaghan Helen I. Roessler Sanne Savelberg Geir Åsmund Myge Hansen Helene Hjellnes Kjell Arne Arntzen Kai Ivar Müller Andreas Rosenberger Dybesland Theresa Harter Monica Sala-Rabanal Chris H. Emfinger Yan Huang Soma S. Singareddy Jamie Gunn David F. Wozniak Attila Kovacs Maarten Massink Federico Tessadori Sarah M. Kamel Jeroen Bakkers Maria S. Remedi Marijke Van Ghelue Colin G. Nichols Gijs van Haaften
author_facet	Marie F. Smeland Conor McClenaghan Helen I. Roessler Sanne Savelberg Geir Åsmund Myge Hansen Helene Hjellnes Kjell Arne Arntzen Kai Ivar Müller Andreas Rosenberger Dybesland Theresa Harter Monica Sala-Rabanal Chris H. Emfinger Yan Huang Soma S. Singareddy Jamie Gunn David F. Wozniak Attila Kovacs Maarten Massink Federico Tessadori Sarah M. Kamel Jeroen Bakkers Maria S. Remedi Marijke Van Ghelue Colin G. Nichols Gijs van Haaften
author_sort	Marie F. Smeland
title	ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
title_short	ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
title_full	ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
title_fullStr	ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
title_full_unstemmed	ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
title_sort	abcc9-related intellectual disability myopathy syndrome is a katp channelopathy with loss-of-function mutations in abcc9
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/3b16521767fb4e02b8c29af4d1962611
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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

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