@article {571,
	title = {Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {2019 02 15},
	pages = {797},
	abstract = {<p>FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.</p>},
	keywords = {Animals, Cells, Cultured, Exons, Gene Expression, Genes, Recessive, Genetic Predisposition to Disease, HEK293 Cells, HeLa Cells, Humans, Mice, Transgenic, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Ophthalmoplegia, RNA-Binding Proteins, Ryanodine Receptor Calcium Release Channel},
	issn = {2041-1723},
	doi = {10.1038/s41467-019-08548-9},
	author = {Esta{\~n}, Mar{\'\i}a Cristina and Fern{\'a}ndez-N{\'u}{\~n}ez, Elisa and Zaki, Maha S and Esteban, Mar{\'\i}a Isabel and Donkervoort, Sandra and Hawkins, Cynthia and Caparros-Martin, Jos{\'e} A and Saade, Dimah and Hu, Ying and Bolduc, Veronique and Chao, Katherine Ru-Yui and Nevado, Juli{\'a}n and Lamuedra, Ana and Largo, Raquel and Herrero-Beaumont, Gabriel and Regadera, Javier and Hernandez-Chico, Concepci{\'o}n and Tizzano, Eduardo F and Martinez-Glez, Victor and Carvajal, Jaime J and Zong, Ruiting and Nelson, David L and Otaify, Ghada A and Temtamy, Samia and Aglan, Mona and Issa, Mahmoud and B{\"o}nnemann, Carsten G and Lapunzina, Pablo and Yoon, Grace and Ruiz-Perez, Victor L}
}
