HNRNPA1 de novo variant associated with early childhood onset, rapidly progressive generalized myopathy

Abstract: 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 deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch
• Notes: Journal of neuromuscular diseases. - 11, 5 (2024) , 1131-1137, ISSN: 2214-3602

Contributors, Places and Time

• Event: Veröffentlichung
• (where): Freiburg
• (who): Universität
• (when): 2025
• Creator: Roos, Andreas ; Häusler, Martin ; Kollipara, Laxmikanth ; Töpf, Ana ; Preuße, Corinna ; Stucka, Rolf ; Nolte, Kay Wilhelm ; Strom, Tim M. ; Berutti, Riccardo ; Jiang, Xuehui ; Koll, Randi ; Lochmüller, Hanns ; Schacht, Sabine Maria ; Zahedi, René P. ; Weis, Joachim ; Senderek, Jan

Further information

• DOI: 10.3233/jnd-240050
• URN: urn:nbn:de:bsz:25-freidok-2617092
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:26 AM CEST