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Cruz, Simao et al. Journal of Neuromuscular Diseases.

Cruz, Simao et al. Journal of Neuromuscular Diseases. 2016 Apr

Simao Cruz and colleagues report the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Their analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation.



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EDGARDO R. PARRILLA, MD
Duke University, Durham, USA

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