Is there anybody in the medical field that understands ultra rare duchenne muscular dystrophy of the phenotype sex inherited with skewed markers
I just want to let the world know that there is a cluster family all living females symptomatic with DMD symptomatic as well as the boys only research and studies that I have found is found in mice I'm here to say that we are willing for a study
, I found some articles that may be of interest to you. They also list references for further reading. I hope this provides a little more information:
https://pubmed.ncbi.nlm.nih.gov/24135430/
https://www.orpha.net/en/disease/detail/206546
https://www.e-kjgm.org/journal/view.html?uid=180&vmd=Full&
https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-13-73
https://www.orpha.net/en/disease/detail/206546#:~:text=Symptomatic%20female%20carriers%20usually%20present,cramps%20have%20also%20been%20reported.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5241604/
Please let us know if you find anything else that's pertinent. - Warmly, Donna (Team Member)
