Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

OBJECTIVE: To study the genetic and phenotypic spectrum of patients harboring recessive mutations in BVES. METHODS: We performed whole-exome sequencing in a multicenter cohort of 1929 patients with a suspected hereditary myopathy, showing unexplained limb-girdle muscular weakness and/or elevated cre...

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Detalles Bibliográficos
Autores principales: De Ridder, Willem, Nelson, Isabelle, Asselbergh, Bob, De Paepe, Boel, Beuvin, Maud, Ben Yaou, Rabah, Masson, Cécile, Boland, Anne, Deleuze, Jean-François, Maisonobe, Thierry, Eymard, Bruno, Symoens, Sofie, Schindler, Roland, Brand, Thomas, Johnson, Katherine, Töpf, Ana, Straub, Volker, De Jonghe, Peter, De Bleecker, Jan L., Bonne, Gisèle, Baets, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641/
https://www.ncbi.nlm.nih.gov/pubmed/31119192
http://dx.doi.org/10.1212/NXG.0000000000000321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641/
https://www.ncbi.nlm.nih.gov/pubmed/31119192
http://dx.doi.org/10.1212/NXG.0000000000000321

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