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Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.

Peter HackmanSalla M RusanenMridul JohariAnna ViholaPer Harald JonsonJaakko SarparantaKati DonnerPäivi LahermoSampo KoivunenHelena LuqueMerja SoininenIbrahim MahjnehMari AuranenMeharji ArumilliMarco SavareseBjarne Udd
Published in: Neurology. Genetics (2021)
A small exon 10 deletion in the gene HNRNPA1 was identified as the cause of MPD3 in this family. The new HNRNPA1-related phenotype, upper limb presenting distal myopathy, was thus confirmed, and the family displays the complexities of gene identification.
Keyphrases
  • upper limb
  • copy number
  • genome wide
  • genome wide identification
  • late onset
  • minimally invasive
  • gene expression
  • dna methylation
  • case report
  • muscular dystrophy
  • genome wide analysis
  • early onset