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Article

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.

International journal of molecular sciences - 26 Sept 2024

Qualtieri Antonio, De Benedittis Selene, Cerantonio Annamaria, Citrigno Luigi, Di Palma Gemma, Gallo Olivier, Cavalcanti Francesca, Spadafora Patrizia

Abstract excerpt

Pathogenic variants localized in the gene coding for the Fukutin-Related Protein (FKRP) are responsible for Limb-Girdle Muscular Dystrophy type 9 (LGMDR9), Congenital Muscular Dystrophies type 1C (MDC1C), Walker-Warburg Syndrome (WWS), and Muscle-Eye-Brain diseases (MEBs). LGMDR9 is the fourth most common hereditary Limb Girdle Muscular Dystrophy in Italy. LGMDR9 patients with severe disease show an overlapping...

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PMID: 39408683
DOI: 10.3390/ijms251910356
PMCID: PMC11476872

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