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Roos, A.* ; Häusler, M.* ; Kollipara, L.* ; Töpf, A.* ; Preusse, C.* ; Stucka, R.* ; Nolte, K.W.* ; Strom, T.* ; Berutti, R. ; Jiang, X.* ; Koll, R.* ; Lochmüller, H.* ; Schacht, S.M.* ; Zahedi, R.P.* ; Weis, J.* ; Senderek, J.*

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

J. Neuromuscul. Dis. 11, 1131-1137 (2024)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
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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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Inclusion Body Myopathy ; Multisystem Proteinopathy ; Muscle Proteomics ; Neuromyopathy ; Proteogenomics ; Vacuolar Myopathy
ISSN (print) / ISBN 2214-3599
e-ISSN 2214-3602
Journal Journal of neuromuscular diseases
Quellenangaben Volume: 11, Issue: 5, Pages: 1131-1137 Article Number: , Supplement: ,
Publisher IOS Press
Publishing Place Amsterdam
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)