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

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

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 F...

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Bibliographic Details
Main Authors: Estañ, M., Fernández-Núñez, E., Zaki, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, Jose, Saade, D., Hu, Y., Bolduc, V., Chao, K., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E., Martinez-Glez, V., Carvajal, J., Zong, R., Nelson, D., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Yoon, G., Ruiz-Perez, V.
Format: Journal Article
Published: Macmillan Publishers Limited 2019
Online Access:http://hdl.handle.net/20.500.11937/74797

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