Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

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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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Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Descripción
Sumario:	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.