RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.

Matteo TagliapietraDavide CardelliniMoreno Ferrarini Silvia Testi Chiara Briani Salvatore Monaco Tiziana Cavallaro Gian Maria Fabrizi

Published in: Journal of neurology (2021)

This study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
risk assessment
peritoneal dialysis
drug induced
patient reported