Article
Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Genes - 31 May 2026
Dinatolo Francesca, D'Antona Lucia, Procopio Radha, Rocca Valentina, Lo Feudo Elisa, Martino Samuele, Dattola Adele, Fabiani Fernanda, Colao Emma, Amato Rosario, Trapasso Francesco, Ruoppolo Margherita, Frisso Giulia, Concolino Daniela, Perrotti Nicola, Viglietto Giuseppe, Iuliano Rodolfo
Abstract excerpt
BACKGROUND/OBJECTIVES: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disorder of mitochondrial fatty acid β-oxidation caused by pathogenic variants in ACADVL. The clinical spectrum is highly heterogeneous, ranging from lethal neonatal cardiomyopathy to late-onset myopathy. This study aims to characterize the rare c.215C>T (p.Ser72Phe) variant, identified in compound...
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