Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, Erik J Kamsteeg, Corrie E Erasmus, Savine Vicart, Anthony Behin, Guillaume Bassez, Armelle Magot, Yann Péréon, Barbara W Brandom, Valeria Guglielmi, Gaetano Vattemi, Frédéric Chevessier, Jean Mathieu, Jérôme Franques, Karen Suetterlin, Michael G Hanna, Lucie Guyant-Marechal, Marc M Snoeck, Mark E Roberts, Thierry Kuntzer, Roberto Fernandez-Torron, Amaia Martínez-Arroyo, Juergen Seeger, Benno Kusters, Susan Treves, Baziel G van Engelen, Bruno Eymard, Nicol C Voermans, Damien Sternberg
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 ancillary investigations remain unanswered, likely leading to incomplete recognition and consequently under-diagnosis. Additionally, little is known about the natural history of the disorder, genotype-phenotype correlations, and the effects of symptomatic treatment...
February 1, 2020: Brain