Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy.

J Hum GenetJun 29, 2026 (epub)
Case ReportMedical GeneticsOpen access

Guangyu Wang, Guiguan Yang, Yaru Wang et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Biallelic pathogenic variants in the MYPN gene are a known cause of congenital myopathy, and exonic variants that activate cryptic splice sites have not been previously reported. Here, we report a Chinese proband with congenital myopathy carrying a homozygous nonsense variant, c.2986C>T (p.Arg996Ter), in exon 14 of the MYPN gene.

Source

PubMed · PMID 42366240Free full text on PubMed Central

Published in J Hum Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Medical Genetics

Clinical ResearchHematology

Ponatinib-Blinatumomab or Imatinib-Chemotherapy for Adult Ph-Positive ALL.

This multicenter, phase 3 randomized trial compared frontline ponatinib plus blinatumomab with imatinib plus chemotherapy in adults with Philadelphia-positive acute lymphoblastic leukemia.

N Engl J MedOct 15, 2026Read summary
Clinical ResearchHematology

Efficacy and safety of mitapivat in patients with sickle cell disease (RISE UP): a phase 3, double-blind, global, randomised, placebo-controlled trial.

RISE UP was a phase 3, double-blind, global, randomised, placebo-controlled trial conducted at 69 sites in 15 countries. It evaluated twice-daily mitapivat in patients older than 16 years with sickle cell disease…

LancetOct 24, 2026Read summary
Clinical ResearchRheumatology

Ianalumab for the Treatment of Patients with Sjögren's Disease.

Two 52-week, double-blind, randomized, placebo-controlled phase III trials evaluated monthly or less frequent ianalumab in patients with active Sjögren's disease.

N Engl J MedOct 22, 2026Read summary

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.