Article
Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Metabolic brain disease - 1 Aug 2023
Cianci Vittoria, Pascarella Angelo, Manzo Lucia, Gasparini Sara, Marsico Oreste, Mammì Anna, Rao Carmelo Massimiliano, Franzutti Claudio, Aguglia Umberto, Ferlazzo Edoardo
Abstract excerpt
BACKGROUND: The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype description of a cluster of five Southern Italy families. METHODS: Family pedigrees of five index males with the...
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