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 - Suppr

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

作者信息

Kasapkara Çiğdem Seher, Tümer Leyla, Zanetti Nadia, Ezgü Fatih, Lamantea Eleonora, Zeviani Massimo

机构信息

Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey.

Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy.

出版信息

Turk J Haematol. 2017 Dec 1;34(4):376-377. doi: 10.4274/tjh.2017.0231. Epub 2017 Aug 23.

DOI:10.4274/tjh.2017.0231

PMID:28832011

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5774363/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d791/5774363/38da3c01f497/TJH-34-376-g2.jpg

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Emerging concepts in the therapy of mitochondrial disease.

Biochim Biophys Acta. 2015 Jun-Jul;1847(6-7):544-57. doi: 10.1016/j.bbabio.2015.03.001. Epub 2015 Mar 10.

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Eur J Hum Genet. 2015 Jun;23(6):880-2. doi: 10.1038/ejhg.2014.192. Epub 2014 Sep 17.

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.

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A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

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A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

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