A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates withYARS2mutations-Reference-Cited by-同舟云学术

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A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates withYARS2mutations

Published:2013-08-05 Issue:9 Volume:161 Page:2334-2338
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shahni Rojeen¹,Wedatilake Yehani¹,Cleary Maureen A.²,Lindley Keith J.³,Sibson Keith R.⁴,Rahman Shamima¹²

Affiliation:

1. Mitochondrial Research Group, Clinical and Molecular Genetics Unit; UCL Institute of Child Health; London UK

2. Metabolic Unit; Great Ormond Street Hospital; London UK

3. Gastroenterology Unit; Great Ormond Street Hospital; London UK

4. Haematology Unit; Great Ormond Street Hospital; London UK

Funder

Great Ormond Street Hospital Children's Charity

Wellcome Trust Research Training Fellowship

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36065/fullpdf

Reference17 articles.

1. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations;Bergmann;Pediatr Blood Cancer,2010

2. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA);Bykhovskaya;Am J Hum Genet,2004

3. Congenital sideroblastic anemias: Iron and heme lost in mitochondrial translation;Fleming;Hematology Am Soc Hematol Educ Program,2011

4. Mitochondrial aminoacyl-tRNA synthetases in human disease;Konovalova;Mol Genet Metab,2013

5. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA;McShane;Am J Hum Genet,1991

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