动力蛋白2突变导致显性中央核性肌病 - Suppr

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[Mutations in dynamin 2 cause dominant centronuclear myopathy].

作者信息

Bitoun Marc, Romero Norma B, Guicheney Pascale

出版信息

Med Sci (Paris). 2006 Feb;22(2):101-2. doi: 10.1051/medsci/2006222101.

DOI:10.1051/medsci/2006222101

PMID:16457739

Abstract

摘要

相似文献

[Mutations in dynamin 2 cause dominant centronuclear myopathy].

Med Sci (Paris). 2006 Feb;22(2):101-2. doi: 10.1051/medsci/2006222101.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235.

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord. 2007 Dec;17(11-12):955-9. doi: 10.1016/j.nmd.2007.06.467. Epub 2007 Sep 6.

Myopathic (not neuropathic) electrophysiological abnormalities in dynamin 2-related centronuclear myopathy.

Brain. 2007 Feb;130(Pt 2):e63; author reply e64. doi: 10.1093/brain/awl186.

Neuromuscul Disord. 2007 Jan;17(1):28-32. doi: 10.1016/j.nmd.2006.09.013. Epub 2006 Nov 28.

引用本文的文献

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.

Hum Genomics. 2017 May 22;11(1):11. doi: 10.1186/s40246-017-0107-5.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158.

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[Mutations in dynamin 2 cause dominant centronuclear myopathy].

作者信息

Bitoun Marc, Romero Norma B, Guicheney Pascale

出版信息

Med Sci (Paris). 2006 Feb;22(2):101-2. doi: 10.1051/medsci/2006222101.

DOI:10.1051/medsci/2006222101

PMID:16457739

Abstract

摘要

相似文献

[Mutations in dynamin 2 cause dominant centronuclear myopathy].

Med Sci (Paris). 2006 Feb;22(2):101-2. doi: 10.1051/medsci/2006222101.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235.

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord. 2007 Dec;17(11-12):955-9. doi: 10.1016/j.nmd.2007.06.467. Epub 2007 Sep 6.

Myopathic (not neuropathic) electrophysiological abnormalities in dynamin 2-related centronuclear myopathy.

Brain. 2007 Feb;130(Pt 2):e63; author reply e64. doi: 10.1093/brain/awl186.

Neuromuscul Disord. 2007 Jan;17(1):28-32. doi: 10.1016/j.nmd.2006.09.013. Epub 2006 Nov 28.

引用本文的文献

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.

Hum Genomics. 2017 May 22;11(1):11. doi: 10.1186/s40246-017-0107-5.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158.