Washington: Researchers have discovered two genetic mutations responsible for the third most common form of muscular dystrophy, paving way for new treatments for the disease. Scientists led by Stephen Tapscott, from Fred Hutchinson Center`s Human Biology Division, found that a rare variant of Facioscapulohumeral muscular dystrophy (FSHD), called type 2, which accounts for about 5 per cent of cases, is caused by two genetic mutations. These mutations together cause the production of muscle-damaging toxins responsible for causing this progressive muscle disease. Researchers found that a combination of genetic variants on chromosomes 4 (called DUX4) and 18 (called SMCHD1) can cause type 2 FSHD.
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