Autosomal recessive inheritance of -related generalized dystonia and myoclonus.
作者信息
Barrett Matthew J, Williams Eli S, Chambers Chelsea, Dhamija Radhika
机构信息
Department of Neurology (M.J.B., C.C.), and Department of Pathology (E.S.W.), University of Virginia Health System, Charlottesville; and Department of Clinical Genomics and Neurology (R.D.), Mayo Clinic, Phoenix, AZ.
出版信息
Neurol Genet. 2017 Sep 25;3(5):193. doi: 10.1212/NXG.0000000000000193. eCollection 2017 Oct.
Abstract
摘要
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本文引用的文献
1
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.表现为家族性肌阵挛性肌张力障碍的腺苷酸环化酶5相关运动障碍
Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22.
2
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.与家族性儿童期起病的全身性肌张力障碍相关的纯合子GNAL突变。
Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun.
3
Phenotypic insights into ADCY5-associated disease.对ADCY5相关疾病的表型见解。
Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
4
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.
5
ADCY5 mutations are another cause of benign hereditary chorea.腺苷酸环化酶5（ADCY5）基因突变是良性遗传性舞蹈病的另一个病因。
Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17.
6
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.一种新发的ADCY5突变导致早发性常染色体显性遗传性舞蹈病和肌张力障碍。
Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27.
7
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.家族性运动障碍伴面肌肌纤维抽搐中的功能获得性 ADCY5 突变。
Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.
8
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.常染色体显性遗传性运动障碍和面部肌束震颤：单外显子测序鉴定出腺苷酸环化酶5的突变
Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.
9
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.THAP1 基因纯合突变导致早发性全身性肌张力障碍。
Mov Disord. 2011 Apr;26(5):858-61. doi: 10.1002/mds.23561. Epub 2011 Mar 21.
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