Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.

J PatholJun 9, 2026 (epub)
Case ReportMedical GeneticsNeurologyOpen access

Md Mehedi Hasan, Jenna Craddock, Tingting Gong 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

Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine-thymine-guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.

Source

PubMed · PMID 42261605Free full text on PubMed Central

Published in J Pathol. 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.