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2013•Neuromuscular DisordersRequires access

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak, S. Robb, Andrea Klein, Suzanne Lillis, Thomas Cullup, L. Feng, Adnan Y. Manzur, Caroline A. Sewry, Stephen Abbs, Heinz Jungbluth, Francesco Muntoni

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Key concepts: Congenital myopathy, Nemaline myopathy, RYR1, Central core disease, Medicine, Myopathy, Pediatrics, Muscle biopsy

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom — Research Paper | ScholarLens