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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 Hybrid
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
Schlagwörter Inclusion Body Myopathy ; Multisystem Proteinopathy ; Muscle Proteomics ; Neuromyopathy ; Proteogenomics ; Vacuolar Myopathy; Prion-like Domains; Proteins
Sprache englisch
Veröffentlichungsjahr 2024
HGF-Berichtsjahr 2024
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
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen BMBF
Federal Ministry of Education and Research, Germany (BMBF)
Canadian Insti-tutes of Health Research (CIHR) for Foundation
Canada Foundation for Innovation
Canada Research Chairs program (Canada Research Chair in Neu-romuscular Genomics and Health)
European Commission
Canada Research Coordinating Committee New Frontiers in Research Fund
Government of Canada Canada First Research Excellence Fund (CFREF)
Fritz-Thyssen-Stiftung
des Nordrhein-Westfalen
DOI 10.3233/JND-240050
WOS ID 001411212600018
Scopus ID 85203476030
PubMed ID 39121134
Erfassungsdatum 2024-09-27
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