Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2. YARS2 variants confer heterogeneous phenotypes ranging from the full MLASA syndrome to a clinically unaffected state. Symptom onset is most common i...

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Detalles Bibliográficos
Autores principales: Rudaks, Laura I., Watson, Eloise, Oboudiyat, Carly, Kumar, Kishore R., Sullivan, Patricia, Cowley, Mark J., Davis, Ryan L., Sue, Carolyn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541592/
https://www.ncbi.nlm.nih.gov/pubmed/35393742
http://dx.doi.org/10.1002/ajmg.a.62755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541592/
https://www.ncbi.nlm.nih.gov/pubmed/35393742
http://dx.doi.org/10.1002/ajmg.a.62755

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