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Myotonic syndrome
- ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 ...
- ... is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 ... of the myotonic dystrophy-associated gene, SIX5, is required for muscle ...