Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

[Introduction/Aims] There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.

Detalles Bibliográficos
Autores: Moore, Ursula, Fernández-Torrón, Roberto, Jacobs, Marni, Gordish, Heather, Díaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/304014
Acceso en línea:http://hdl.handle.net/10261/304014
https://api.elsevier.com/content/abstract/scopus_id/85128799841
Access Level:acceso abierto
Palabra clave:Respiratory
Miyoshi myopathy
Cardiac
Dysferlin
Limb girdle muscular dystrophy R2
Descripción
Sumario:[Introduction/Aims] There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.

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