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Dutch FSHD Research Program (DFRP) is a joint science program of the
Center for Human and Clinical Genetics at the Leiden University Medical
Center (LUMC) and the Department of Neurology of the University Medical
Center Nijmegen (UMCN). The program is coordinated by Dr.
Silvère van der Maarel, Prof. Dr.
Rune Frants (both LUMC) and Prof.
Dr. George Padberg (UMCN).
pages describe the FSHD research program as carried out in The
Netherlands. The program has been successful over the past two
decades and has contributed significantly to major breakthroughs in FSHD
such as linkage of FSHD to 4qter, identification and characterization of
the subtelomeric deletions associated with FSHD, somatic mosaicism, and
subtelomeric exchanges between 4qter and 10qter. Also, the clinical
spectrum of FSHD is well studied and showed that sensorineural deafness
and retinovasulopathy are part of FSHD. The only epidemiological study
on FSHD was carried out by the DFRP.