Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

doi:10.1093/brain/awae046

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Article

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Brain : a journal of neurology - 1 Aug 2024

Iruzubieta Pablo, Damborenea Alberto, Ioghen Mihaela, Bajew Simon, Fernandez-Torrón Roberto, Töpf Ana, Herrero-Reiriz Álvaro, Epure Diana, Vill Katharina, Hernández-Laín Aurelio, Manterola María, Azkargorta Mikel, Pikatza-Menoio Oihane, Pérez-Fernandez Laura, García-Puga Mikel, Gaina Gisela, Bastian Alexandra, Streata Ioana, Walter Maggie C, Müller-Felber Wolfgang, Thiele Simone, Moragón Saioa, Bastida-Lertxundi Nerea, López-Cortajarena Aitziber, Elortza Felix, Gereñu Gorka, Alonso-Martin Sonia, Straub Volker, de Sancho David, Teleanu Raluca, López de Munain Adolfo, Blázquez Lorea

Abstract excerpt

Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations in genes involved in RNA metabolism or characterized by alterations in RNA splicing have been described. Here, we present five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN gene. Snurportin-1, the...

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Identifiers

PMID: 38366623
DOI: 10.1093/brain/awae046
PMCID: PMC11292911

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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