Article
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
European journal of human genetics : EJHG - 1 Aug 2022
Nicita Francesco, Stregapede Fabrizia, Deodato Federica, Pizzi Simone, Martinelli Simone, Pagliara Daria, Aiello Chiara, Cumbo Francesca, Piemonte Fiorella, D'Amico Jessica, Pro Stefano, Longo Daniela, Genovese Silvia, Tartaglia Marco, Escolar Maria L, Bertini Enrico, Travaglini Lorena
Abstract excerpt
Krabbe disease (KD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in GALC. Most patients manifest the severe classic early-infantile form, while a small percentage of cases have later-onset types. We present two siblings with atypical clinical and neuroimaging phenotypes, compared to the classification of KD, who were found to carry biallelic loss-of-function GALC variants,...
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