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

Johnnie TurnerChristine C BruelsAudrey L DaughertyElicia A EstrellaSeth StafkiSafoora B SyedaHannah R LittelLynn PaisVijay S GaneshHart G W LidovSimon M L PainePaul MaddisonRachel E HarrisonVolker StraubPartha S GhoshChristina A PacakLouis M KunkelIsabelle DraperAna TopfPeter B Kang

Published in: Muscle & nerve (2024)

Both stop-loss variants in our probands are likely pathogenic. Our findings contribute to the disease characterization of pathogenic variants in HNRNPA1. This gene should be screened in clinical diagnostic testing of unsolved cases of sporadic or dominant juvenile-onset myopathy.

Keyphrases

copy number
late onset
genome wide
dna methylation
gene expression
genome wide identification
myasthenia gravis
genome wide analysis