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

ABSTRACT: 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. We studied the largest cohort of Brody disease patients to date (n = 40), consisting of 22 new patients (19 novel mutations) and all 18 previously published patients. This observational study shows that the main feature of Brody disease is

SUBMITTER: Molenaar JP 

PROVIDER: S-EPMC7009512 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature