MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia.
作者信息
Sait Benazer, Chidambaram Aakash C, Dinesh Babu R M, Vidhyasagar Krishnamoorthy, Xavier Joshua R, Sagayaraj Benjamin
机构信息
Department of Pediatrics, Saveetha Institute of Medical and Technical Sciences, Chennai, Tamil Nadu, India.
出版信息
Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1202-1204. doi: 10.4103/aian.aian_661_22. Epub 2022 Nov 17.
Abstract
摘要
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本文引用的文献
1
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.肌病、乳酸性酸中毒和铁粒幼细胞贫血1（MLASA1）：25年随访
Mol Genet Metab Rep. 2019 Sep 16;21:100517. doi: 10.1016/j.ymgmr.2019.100517. eCollection 2019 Dec.
2
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.对一名因新型PUS1突变导致的MLASA综合征长期存活患者的临床和分子研究。
Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10.
3
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.假尿苷酸合酶（PUS1）突变患者成年后的异常临床表型及长期存活情况
Eur J Hum Genet. 2015 Jun;23(6):880-2. doi: 10.1038/ejhg.2014.192. Epub 2014 Sep 17.
4
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.线粒体肌病、乳酸性酸中毒和铁粒幼细胞贫血（MLASA）综合征，与线粒体编码的ATP6基因中的一种新的从头突变（m.8969G>A）相关。
Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30.
5
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.一种独特的线粒体肌病、乳酸性酸中毒和铁粒幼细胞性贫血（MLASA）表型与 YARS2 突变相关。
Am J Med Genet A. 2013 Sep;161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5.
6
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.线粒体酪氨酸 tRNA 合成酶基因（YARS2）突变导致肌病、乳酸性酸中毒和铁粒幼细胞性贫血--MLASA 综合征。
Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.
7
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).两名患有肌病、乳酸性酸中毒和铁粒幼细胞性贫血（MLASA）的兄弟中假尿苷酸合酶1（PUS1）发生无义突变。
J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20.
8
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).假尿苷合酶1（PUS1）中的错义突变导致线粒体肌病和铁粒幼细胞性贫血（MLASA）。
Am J Hum Genet. 2004 Jun;74(6):1303-8. doi: 10.1086/421530. Epub 2004 Apr 22.
9
Mitochondrial myopathy and sideroblastic anemia.线粒体肌病和铁粒幼细胞性贫血。
Am J Med Genet A. 2004 Mar 1;125A(2):201-4. doi: 10.1002/ajmg.a.20368.
10
Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.肌病、乳酸性酸中毒和铁粒幼细胞贫血：一种新综合征。
Am J Med Genet. 1995 Jan 30;55(3):372-8. doi: 10.1002/ajmg.1320550325.
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