Facioscapulohumeral muscular dystrophy

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The 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). 

These 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.