Matches in DBpedia 2015-10 for { ?s ?p "Central core disease of muscle (CCD, CCO), also known as multicore myopathy, multiminicore disease and congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), is a rare myopathy disorder characterised by "early onset of symptoms, mild proximal weakness, hyporeflexia or areflexia, normal serum muscle enzyme levels, short duration of motor unit potentials, uniform type 1 fibers, and nonprogression". The disease has a mild and non-progressive course and usually manifests by weakness of hands.The disease has been associated with a genetic mutation in the RYR1 gene.As with the majority of neuromuscular diseases, there is no known cure to CCD.Central core disease of muscle was first described in 1956 by G. M. Shy and K. R. Magee. "Congenital neuromuscular disease with uniform type 1 fibers", only recently identified with CCD, was described by Japanese neurologists Y. Une and H. Haraguchi in 1980."@en }
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- Central_core_disease_of_muscle abstract "Central core disease of muscle (CCD, CCO), also known as multicore myopathy, multiminicore disease and congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), is a rare myopathy disorder characterised by "early onset of symptoms, mild proximal weakness, hyporeflexia or areflexia, normal serum muscle enzyme levels, short duration of motor unit potentials, uniform type 1 fibers, and nonprogression". The disease has a mild and non-progressive course and usually manifests by weakness of hands.The disease has been associated with a genetic mutation in the RYR1 gene.As with the majority of neuromuscular diseases, there is no known cure to CCD.Central core disease of muscle was first described in 1956 by G. M. Shy and K. R. Magee. "Congenital neuromuscular disease with uniform type 1 fibers", only recently identified with CCD, was described by Japanese neurologists Y. Une and H. Haraguchi in 1980.".