SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

ABSTRACT 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 desc...

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Библиографические подробности

Главные авторы:	Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Wiley 2026-02-01
Серии:	Annals of Clinical and Translational Neurology
Предметы:	inclusion body myositis (IBM) muscular dystrophy neurogenetics SNUPN snurportin‐1 splicing
Online-ссылка:	https://doi.org/10.1002/acn3.70211
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