Sensing a Breakthrough
Unique International Collaboration Advances Understanding and Treatment of a Muscular Dystrophy
By Michael Wentzel
Rabi Tawil, M.D.
But FSHD, which was first described by French physicians in 1884, is an atypical genetic disease. While the discovery of the genetic defect on chromosome 4 opened new areas of research, it also added to the disease mysteries. This genetic defect involves the loss of a critical number of repetitive pieces of DNA, a sequence called D4Z4. At least 11 copies of the sequence are required for normal health. Those who have fewer than 11 get the disease.
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