Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
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Nature Portfolio
2019
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oai:doaj.org-article:ae986c1ae3dd41bca1ed0fb9586a13c82021-12-02T16:58:07ZRecessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy10.1038/s41467-019-08548-92041-1723https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c82019-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-08548-9https://doaj.org/toc/2041-1723FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.María Cristina EstañElisa Fernández-NúñezMaha S. ZakiMaría Isabel EstebanSandra DonkervoortCynthia HawkinsJosé A. Caparros-MartinDimah SaadeYing HuVéronique BolducKatherine Ru-Yui ChaoJulián NevadoAna LamuedraRaquel LargoGabriel Herrero-BeaumontJavier RegaderaConcepción Hernandez-ChicoEduardo F. TizzanoVictor Martinez-GlezJaime J. CarvajalRuiting ZongDavid L. NelsonGhada A. OtaifySamia TemtamyMona AglanMahmoud IssaCarsten G. BönnemannPablo LapunzinaGrace YoonVictor L. Ruiz-PerezNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-19 (2019) |
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DOAJ |
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Science Q María Cristina Estañ Elisa Fernández-Núñez Maha S. Zaki María Isabel Esteban Sandra Donkervoort Cynthia Hawkins José A. Caparros-Martin Dimah Saade Ying Hu Véronique Bolduc Katherine Ru-Yui Chao Julián Nevado Ana Lamuedra Raquel Largo Gabriel Herrero-Beaumont Javier Regadera Concepción Hernandez-Chico Eduardo F. Tizzano Victor Martinez-Glez Jaime J. Carvajal Ruiting Zong David L. Nelson Ghada A. Otaify Samia Temtamy Mona Aglan Mahmoud Issa Carsten G. Bönnemann Pablo Lapunzina Grace Yoon Victor L. Ruiz-Perez Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| description |
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models. |
| format |
article |
| author |
María Cristina Estañ Elisa Fernández-Núñez Maha S. Zaki María Isabel Esteban Sandra Donkervoort Cynthia Hawkins José A. Caparros-Martin Dimah Saade Ying Hu Véronique Bolduc Katherine Ru-Yui Chao Julián Nevado Ana Lamuedra Raquel Largo Gabriel Herrero-Beaumont Javier Regadera Concepción Hernandez-Chico Eduardo F. Tizzano Victor Martinez-Glez Jaime J. Carvajal Ruiting Zong David L. Nelson Ghada A. Otaify Samia Temtamy Mona Aglan Mahmoud Issa Carsten G. Bönnemann Pablo Lapunzina Grace Yoon Victor L. Ruiz-Perez |
| author_facet |
María Cristina Estañ Elisa Fernández-Núñez Maha S. Zaki María Isabel Esteban Sandra Donkervoort Cynthia Hawkins José A. Caparros-Martin Dimah Saade Ying Hu Véronique Bolduc Katherine Ru-Yui Chao Julián Nevado Ana Lamuedra Raquel Largo Gabriel Herrero-Beaumont Javier Regadera Concepción Hernandez-Chico Eduardo F. Tizzano Victor Martinez-Glez Jaime J. Carvajal Ruiting Zong David L. Nelson Ghada A. Otaify Samia Temtamy Mona Aglan Mahmoud Issa Carsten G. Bönnemann Pablo Lapunzina Grace Yoon Victor L. Ruiz-Perez |
| author_sort |
María Cristina Estañ |
| title |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_short |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_full |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_fullStr |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_full_unstemmed |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_sort |
recessive mutations in muscle-specific isoforms of fxr1 cause congenital multi-minicore myopathy |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8 |
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