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

doi:10.1093/brain/awz410

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Article

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

Brain : a journal of neurology - 1 Feb 2020

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

Abstract excerpt

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....

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PMID: 32040565
DOI: 10.1093/brain/awz410
PMCID: PMC7009512

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