Article
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Annals of clinical and translational neurology - 1 Feb 2026
Muelas Nuria, Iruzubieta Pablo, Damborenea Alberto, Pérez-Fernández Laura, Azorín Inmaculada, Jiménez García Juan Carlos, Töpf Ana, Martí Pilar, Fores-Toribio Lorena, Manterola María, Blanco-Mañez Rosana, Pikatza-Menoio Oihane, Alonso-Martín Sonia, Straub Volker, Cortajarena Aitziber L, López de Munain Adolfo, De Sancho David, Blázquez Lorea, Vilchez Juan J
Abstract excerpt
OBJECTIVE: SNUPN-related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described. Here we report the first family with SNUPN-related muscular dystrophy presenting an adult-onset myopathy as well as...
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