Publication: Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
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Maggi, L., Scoto, M., Cirak, S., Robb, S. A., Klein, A., Lillis, S., Cullup, T., Feng, L., Manzur, A. Y., Sewry, C. A., Abbs, S., Jungbluth, H., & Muntoni, F. (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular Disorders, 23(3), 195–205. https://doi.org/10.1016/j.nmd.2013.01.004
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The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mi
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Maggi, L., Scoto, M., Cirak, S., Robb, S. A., Klein, A., Lillis, S., Cullup, T., Feng, L., Manzur, A. Y., Sewry, C. A., Abbs, S., Jungbluth, H., & Muntoni, F. (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular Disorders, 23(3), 195–205. https://doi.org/10.1016/j.nmd.2013.01.004
