Adult Diagnosis of Type 1 Fiber Predominance Myopathy Caused by Novel Mutations in the RYR1 Gene.
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DOI: 10.1097/cnd.0000000000000237
Abstract: We describe a 57-year-old patient with mild diffuse weakness that was incidentally detected when he was evaluated for restless leg syndrome. An electromyography confirmed the presence of a myopathy without suggestion of inflammatory myopathy. A… read more here.
Keywords: fiber predominance; ryr1 gene; type fiber; myopathy ... See more keywords