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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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Bibliografski detalji
Izdano u:Mol Genet Metab Rep
Glavni autori: Woods, Jeremy, Cederbaum, Stephen
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2019
Teme:
Online pristup: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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