伴有锥体束征的常染色体隐性遗传性夏科-马里-图思病中的GDAP1突变 - Suppr

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

作者信息

Biancheri Roberta, Zara Federico, Striano Pasquale, Pedemonte Marina, Cassandrini Denise, Stringara Silvia, Manganelli Fiore, Santoro Lucio, Schenone Angelo, Bellone Emilia, Minetti Carlo

出版信息

J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10.

DOI:10.1007/s00415-006-0149-4

PMID:16607474

Abstract

摘要

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GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.伴有锥体束征的常染色体隐性遗传性夏科-马里-图思病中的GDAP1突变

J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10.

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.意大利轴索性遗传性运动感觉神经病患者的GDAP1突变：表型特征与临床病程

Neuromuscul Disord. 2016 Jan;26(1):26-32. doi: 10.1016/j.nmd.2015.09.008. Epub 2015 Sep 16.

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Neuromuscul Disord. 2003 Nov;13(9):720-8. doi: 10.1016/s0960-8966(03)00093-2.

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.在一个患有轴索性隐性遗传性4型腓骨肌萎缩症的波兰家族中，GDAP1基因出现一种新的Met116Thr突变。

J Neurol Sci. 2006 Feb 15;241(1-2):7-11. doi: 10.1016/j.jns.2005.10.002. Epub 2005 Dec 15.

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.由GDAP1基因中复合杂合的3'-剪接位点和Ser130Cys突变引起的常染色体隐性遗传性夏科-马里-图斯病轴索性型。

Neuropediatrics. 2005 Jun;36(3):206-9. doi: 10.1055/s-2005-865606.

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.两位 GDAP1 突变相关的隐性中间型腓骨肌萎缩症患者。

J Peripher Nerv Syst. 2011 Jun;16(2):143-6. doi: 10.1111/j.1529-8027.2011.00329.x.

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.声带和膈肌麻痹，作为一个患常染色体隐性遗传性夏科-马里-图思病的法国家庭的临床特征，与GDAP1基因的一个新突变相关。

Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003.

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs.一名患有夏科-马里-图思病和锥体束征的意大利患者中发现一种新的GJB1突变。

Muscle Nerve. 2011 Oct;44(4):613-5. doi: 10.1002/mus.22156.

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.由GDAP1基因纯合Leu239Phe突变引起的早发型夏科-马里-图斯病。

Acta Myol. 2006 Jun;25(1):34-7.

Neuromuscul Disord. 2017 Aug;27(8):760-765. doi: 10.1016/j.nmd.2017.04.001. Epub 2017 Apr 20.

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The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.常见遗传性线粒体动力学神经病的病理特征

Front Neurosci. 2021 Jul 22;15:705277. doi: 10.3389/fnins.2021.705277. eCollection 2021.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.早发性夏科-马里-图思病综合征中GDAP1和PRX基因的两个新突变。

Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085.

本文引用的文献

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.伴有锥体束征的夏科-马里-图斯病在遗传上具有异质性：存在和不存在MFN2突变的家系。

Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29.

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.GDAP1，一种引发4A型遗传性运动感觉神经病的蛋白质，在神经元中表达，并与线粒体相关。

Hum Mol Genet. 2005 Apr 15;14(8):1087-94. doi: 10.1093/hmg/ddi121. Epub 2005 Mar 16.

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.在三个意大利家庭中发现与夏科-马里-图斯病相关的GDAP1基因新突变：存在奠基者效应的证据

J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1495-8. doi: 10.1136/jnnp.2003.028100.

CMT with pyramidal features. Charcot-Marie-Tooth.

Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71.

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.GDAP1 基因的突变：伴有脱髓鞘和轴索性神经病的常染色体隐性遗传性 Charcot-Marie-Tooth 病。

Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54.

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.编码神经节苷脂诱导分化相关蛋白1的基因在轴索性遗传性运动感觉神经病4A型中发生突变。

Nat Genet. 2002 Jan;30(1):22-5. doi: 10.1038/ng798. Epub 2001 Dec 17.

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.神经节苷脂诱导分化相关蛋白-1在4A型夏科-马里-图斯病/8q21中发生突变。

Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17.

Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.常染色体隐性遗传性夏科-马里-图思病轴索性型的一个新基因座与8号染色体q21.3区域的连锁关系。

Neuromuscul Disord. 2001 Jan;11(1):27-34. doi: 10.1016/s0960-8966(00)00162-0.

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GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

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