Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Luísa Panadés-de OliveiraClaudia Rodríguez-LópezDiana Cantero MontenegroMaría Del Mar Marcos ToledanoAna Fernández-MarmiesseJesús Esteban PérezAurelio Hernández LainCristina Domínguez-González

Published in: Journal of neurology (2019)

Manifestations of Bethlem myopathy are quite variable, so either contractures or weakness may be lacking, and no phenotype-genotype associations can be brought.

Keyphrases

end stage renal disease
late onset
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
early onset