Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after the initial case presentation, only 18 patients have been reported and many questions regarding the clinical phenotype and results of ancilla...

Descripción completa

Detalles Bibliográficos
Autores principales: Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009512/
https://www.ncbi.nlm.nih.gov/pubmed/32040565
http://dx.doi.org/10.1093/brain/awz410

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009512/
https://www.ncbi.nlm.nih.gov/pubmed/32040565
http://dx.doi.org/10.1093/brain/awz410

Ejemplares similares