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Article

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Journal of neuromuscular diseases - 1 Jan 2024

Roos Andreas, Häusler Martin, Kollipara Laxmikanth, Topf Ana, Preusse Corinna, Stucka Rolf, Nolte Kay, Strom Tim, Berutti Riccardo, Jiang Xuehui, Koll Randi, Lochmüller Hanns, Schacht Sabine Maria, Zahedi René P, Weis Joachim, Senderek Jan

Abstract excerpt

HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39121134
DOI: 10.3233/JND-240050
PMCID: PMC11380306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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