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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from the Shiraz region of Iran. The rarity of this...
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| 發表在: | Mol Genet Metab Rep |
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| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6796764/ https://ncbi.nlm.nih.gov/pubmed/31641589 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100517 |
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