TY - JOUR
T1 - Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
AU - Estañ, María Cristina
AU - Fernández-Núñez, Elisa
AU - Zaki, Maha S.
AU - Esteban, María Isabel
AU - Donkervoort, Sandra
AU - Hawkins, Cynthia
AU - Caparros-Martin, José A.
AU - Saade, Dimah
AU - Hu, Ying
AU - Bolduc, Véronique
AU - Chao, Katherine Ru Yui
AU - Nevado, Julián
AU - Lamuedra, Ana
AU - Largo, Raquel
AU - Herrero-Beaumont, Gabriel
AU - Regadera, Javier
AU - Hernandez-Chico, Concepción
AU - Tizzano, Eduardo F.
AU - Martinez-Glez, Victor
AU - Carvajal, Jaime J.
AU - Zong, Ruiting
AU - Nelson, David L.
AU - Otaify, Ghada A.
AU - Temtamy, Samia
AU - Aglan, Mona
AU - Issa, Mahmoud
AU - Bönnemann, Carsten G.
AU - Lapunzina, Pablo
AU - Yoon, Grace
AU - Ruiz-Perez, Victor L.
N1 - Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s41467-019-08548-9
DO - 10.1038/s41467-019-08548-9
M3 - Article
C2 - 30770808
AN - SCOPUS:85061594997
SN - 2041-1723
VL - 10
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 797
ER -