myopathy, lactic acidosis, and sideroblastic anemia 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Connect & Download

Disease Overview

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


Synonyms

  • MLASA1
  • PUS1 myopathy, lactic acidosis, and sideroblastic anaemia
  • PUS1 myopathy, lactic acidosis, and sideroblastic anemia
  • mitochondrial myopathy and sideroblastic anaemia
  • mitochondrial myopathy and sideroblastic anemia
  • myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1
  • myopathy, lactic acidosis, and sideroblastic anemia 1
  • myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report

Access State Report Card Data

Please complete this form to access the requested resource.

Please consider sharing some basic information with us.

Name(Required)
This field is hidden when viewing the form