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

doi:10.1016/j.nmd.2013.01.004

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

Neuromuscular disorders : NMD - 1 Mar 2013

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

Abstract excerpt

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...

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

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