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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)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Inclusion Body Myopathy ; Multisystem Proteinopathy ; Muscle Proteomics ; Neuromyopathy ; Proteogenomics ; Vacuolar Myopathy
ISSN (print) / ISBN 2214-3599
e-ISSN 2214-3602
Zeitschrift Journal of neuromuscular diseases
Quellenangaben Band: 11, Heft: 5, Seiten: 1131-1137 Artikelnummer: , Supplement: ,
Verlag IOS Press
Verlagsort Amsterdam
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)