SNVs at exon ends in COL6 genes cause exon skipping, leading to muscular dystrophies. Therapeutic approaches using specialized U1 snRNAs and allele-specific siRNAs to restore normal collagen VI production show great promise! https://t.co/MiA7nlu3Lc
Getting a stronghold on the pathogenesis in rare muscular dystrophies!
Carsten G. Bönnemann & team @NIH present a mouse model of collagen VI-related muscular dystrophy and link the ECM regulation of TGFβ with downstream skeletal muscle abnormalities: https://t.co/yaEJLoGu6f
Checked bluesky, found los of scientists, but I am missing patient's associations... perhaps other researchers may invite their favourite charities over?
I'll start.. @mndassoc@MDUK_News@DuchenneDF@worldduchenne... are u on 🦋?
* Steep hills and stairs are still difficult for us.
* He is not as agile as his peers.
*I think skin damage such as wounds and fly bites heal slower than us.
* No scoliosis.
* Pectus Excavatum - the deformity, which was 2.3 cm with the vacuum device, became perfect at the end of the 10th month. In addition, as an additional benefit, longer and deeper breathing measurements were obtained.