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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Detalles Bibliográficos
Autores principales: Woods, Jeremy, Cederbaum, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Review
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

Internet

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

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