MLASA1 is a poly-phenic but not a di-phenic condition.
作者信息
Finsterer Josef
机构信息
Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
出版信息
Mol Genet Metab Rep. 2019 Nov 9;21:100538. doi: 10.1016/j.ymgmr.2019.100538. eCollection 2019 Dec.
Abstract
摘要
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MLASA1 is a poly-phenic but not a di-phenic condition.MLASA1是一种多表型而非双表型病症。
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Response to "MLASA1 is a poly-phenic but not a di-phenic condition".对“MLASA1是一种多表型而非双表型病症”的回应。
Mol Genet Metab Rep. 2019 Dec 5;22:100546. doi: 10.1016/j.ymgmr.2019.100546. eCollection 2020 Mar.
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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
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A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.一例由新型PUS1突变引起的肌病、乳酸性酸中毒、铁粒幼细胞贫血（MLASA）病例
Turk J Haematol. 2017 Dec 1;34(4):376-377. doi: 10.4274/tjh.2017.0231. Epub 2017 Aug 23.
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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.
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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.
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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.
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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。
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