The most interesting result is that there is a high clinical variability in children. with FSHD1
Photo by Melissa Labellarte on Unsplash
What is it about?
It is a muscular dystrophy called Facioscapulo-humeral -dystrophy type1.
Why is it important?
Is the largest series reported and beside index cases we studied the family for the presence of reduced allele, all was done scoring both patient and relatives with the clinical score we previously studied and validated in Muscle&Nerve 2010.
The following have contributed to this page: Prof Corrado Angelini