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article_metadata: 10.3233/JND-240050
article_metadata: J Neuromuscul Dis
article_metadata: 2024;11(5):1131-1137.
article_metadata: inclusion body myopathy multisystem proteinopathy muscle proteomics neuromyopathy proteogenomics vacuolar myopathy
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39121134/
article_metadata: Heterogeneous Nuclear Ribonucleoprotein A1 / genetics Muscular Diseases / genetics
article_metadata: Heterogeneous Nuclear Ribonucleoprotein A1 / genetics Muscular Diseases / genetics Case Reports Age of Onset Child Disease Progression Female Humans Muscle, Skeletal / pathology Mutation Phenotype Heterogeneous Nuclear Ribonucleoprotein A1 hnRNPA1 protein, human
article_metadata: PMC11380306
article_metadata: 39121134
article_metadata: HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
article_metadata: 2024