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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796764/ https://www.ncbi.nlm.nih.gov/pubmed/31641589 http://dx.doi.org/10.1016/j.ymgmr.2019.100517 |