电生理学扩展了伴有过度自噬的X连锁肌病的表型谱。 - Suppr

Suppr

超能文献

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.

作者信息

Munteanu I, Ackerley C A, Mnatzakanian G N, Kissel J T, Minassian B A

机构信息

Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Neurology. 2005 Mar 8;64(5):927-8. doi: 10.1212/01.WNL.0000152884.11980.53.

DOI:10.1212/01.WNL.0000152884.11980.53

PMID:15753448

Abstract

摘要

相似文献

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.

Neurology. 2005 Mar 8;64(5):927-8. doi: 10.1212/01.WNL.0000152884.11980.53.

A new congenital form of X-linked autophagic vacuolar myopathy.

Neurology. 2005 Oct 11;65(7):1132-4. doi: 10.1212/01.wnl.0000178979.19887.f5.

Fine-mapping the gene for X-linked myopathy with excessive autophagy.

Neurology. 2008 Sep 16;71(12):951-3. doi: 10.1212/01.wnl.0000325991.01899.35.

Consequences of mutations within the C terminus of the FHL1 gene.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2.

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3.

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19.

Electrophysiological findings in X-linked myopathy with excessive autophagy.

Ann Neurol. 2002 May;51(5):648-52. doi: 10.1002/ana.10173.

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.

Neurology. 2005 Mar 22;64(6):1091-2. doi: 10.1212/01.WNL.0000154471.33156.55.

引用本文的文献

Novel Intronic Mutation in Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Genes (Basel). 2022 Nov 29;13(12):2245. doi: 10.3390/genes13122245.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.

Neurology. 2005 Mar 8;64(5):927-8. doi: 10.1212/01.WNL.0000152884.11980.53.

A new congenital form of X-linked autophagic vacuolar myopathy.

Neurology. 2005 Oct 11;65(7):1132-4. doi: 10.1212/01.wnl.0000178979.19887.f5.

Fine-mapping the gene for X-linked myopathy with excessive autophagy.

Neurology. 2008 Sep 16;71(12):951-3. doi: 10.1212/01.wnl.0000325991.01899.35.

Consequences of mutations within the C terminus of the FHL1 gene.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2.

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3.

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19.

Electrophysiological findings in X-linked myopathy with excessive autophagy.

Ann Neurol. 2002 May;51(5):648-52. doi: 10.1002/ana.10173.

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.

Neurology. 2005 Mar 22;64(6):1091-2. doi: 10.1212/01.WNL.0000154471.33156.55.

引用本文的文献

Novel Intronic Mutation in Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Genes (Basel). 2022 Nov 29;13(12):2245. doi: 10.3390/genes13122245.