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Article

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Muscle & nerve - 1 Oct 2024

Turner Johnnie, Bruels Christine C, Daugherty Audrey L, Estrella Elicia A, Stafki Seth, Syeda Safoora B, Littel Hannah R, Pais Lynn, Ganesh Vijay S, Lidov Hart G W, Paine Simon M L, Maddison Paul, Harrison Rachel E, Straub Volker, Ghosh Partha S, Pacak Christina A, Kunkel Louis M, Draper Isabelle, Topf Ana, Kang Peter B

Abstract excerpt

INTRODUCTION/AIMS: Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals with monoallelic stop loss variants...

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Identifiers

PMID: 39072769
DOI: 10.1002/mus.28214
PMCID: PMC11469940

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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