Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene which leads to progressive muscle degeneration and weakness. It affects primarily boys and they have to loss their life.

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Hypertrophic cardiomyopathy: most commonly affected gene is MYH7 on 14q; implicated mutation is R403Q.

Autosomal dominant dilated cardiomyopathy: most common MYH7 (same) gene mutation, encoding b-myosin heavy chain. X-linked dilated cardiomyopathy - dystrophin gene mutation.

Another 'funny' thing (would be if lives didn't depend on this) is that Rind cites his own article on dystrophin replacement therapy. Did I miss that he's a Duchenne expert? I'd love to know what he's seeing in clinic. I'll wait.

Duchenne Muscular Dystrophy
Childhood-onset, progressive proximal myopathy due to a mutation in the dystrophin gene (X-linked).

Picture of :
1- calves hypertrophy
2- gower sign

Happening now! Fantastic keynote on using CRSPR-Cas9 gene editing of dystrophin in Duchenne Muscular Dystrophy at #BCVS2023 ⁦AHA Science⁩!

🔬 The latest BIND publication by Saoudi et al. shows that restoring dystrophin expression in the brain of mdx52 mice using tricyclo-DNA antisense oligonucleotides improves anxiety and fear-related behaviors.
The #OpenAccess paper is available here: bindproject.eu/partial-restor…

Dr. Reza is the dystrophin of our fellows clinic, absorbing the stress and shock of challenging cases and pulling us all together as one collaborative functioning unit.

📝 Our latest BIND paper shows that tricyclo-DNA antisense oligonucleotides targeting exon 51 can restore dystrophin expression in the brain, leading to improved emotional and cognitive deficits in mdx52 mice.
Read the full paper by Saoudi et al: bindproject.eu/partial-restor…

It was a great pleasure giving a flash presentation on interactome analysis of dystrophin in the brain BINDproject. Thank you for the invitation UCL_QS_CNMD ICGNMD

Struggling with immuno on tissue sections? Fixation might be the culprit! While optimizing our dystrophin immuno protocol, skipping the 4% PFA overnight submersion led to stunning results. Kudos to PhD candidate Josh for the image! #Science #DMD #Immunohistochemistry #LabTips

Listening to a DMD KOL now, he says the problem with gene therapy for DMD is that you need a full protein that is functional and micro-dystrophin doesn't cut it. Not optimistic on the trials below. $SRPT $PFE $SLDB $RGNX

An engineered transfer RNA molecule developed by hC Bioscience could be a fix for the dystrophin protein that is lacking in Duchenne MD. buff.ly/4bEL3fg

And last but not least at 20th IIM meeting in Assisi, Anne Forand from PIETRI-ROUXEL team, presenting data on cardiac structure and function in DMD model after dystrophin replacement therapy
Faculté de Santé de Sorbonne Université
Institut de Myologie
Inserm Île-de-France
Well done!

Lou Kunkel ('the Father of the DMD gene') presenting dystrophin independent therapies for Duchenne Muscular Dystrophy
Boston Children's Harvard Medical School

And amazing data from Felipe Leite, PhD (He/Him)
#Myotwitter #Inspiring 💪🧬

Systemic Delivery of Full-Length Dystrophin in DMD Mice
researchsquare.com/article/rs-386…

Anyone at #OTS23 interested in quantifying #MBLN or #DMPK in myotonic dystrophy still have all day to enquire Andrea López about her award winning poster... (we also use that methodology to quantify #dystrophin , #utrophin and many other #muscle proteins).

🧬therapy for heart failure - a promise in evolution ✨
🔥AAV delivered micro-dystrophin for DMD & Danon Disease
#HFSA2023 HFSA

$RGNX getting into the vectorized exon skipping game (IND 1H25)

Big bet that exon skipped dystrophin will differentiate from micro-dystrophin clinically, which may be true, but hard to make the ROI compelling on an exon-by-exon incident population, IMO

love how I put dystrophin instead of myoglobin although I chose that as my first answer guys don’t take anatomy