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Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies.

作者信息

Bamaga Ahmed K, Weihl Conrad C

机构信息

Department of Neurology, Washington University School of Medicine, St. Louis, MO.

出版信息

Neurol Genet. 2017 Mar 21;3(2):e146. doi: 10.1212/NXG.0000000000000146. eCollection 2017 Apr.

Abstract
摘要

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本文引用的文献

1
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Neurol Genet. 2017 Mar 21;3(2):e140. doi: 10.1212/NXG.0000000000000140. eCollection 2017 Apr.
2
Myopathology in congenital myopathies.
Neuropathol Appl Neurobiol. 2017 Feb;43(1):5-23. doi: 10.1111/nan.12369.
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Review of Cardiac Disease in Nemaline Myopathy.
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Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26.
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SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.
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Approach to the diagnosis of congenital myopathies.
Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.
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Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.
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Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24.

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