Myopathy, lactic acidosis, and sideroblastic anemia 2

Common Name(s)

Myopathy, lactic acidosis, and sideroblastic anemia 2

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by {3:Riley et al., 2013}). For a discussion of genetic heterogeneity of MLASA, see MLASA1 ({600462}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myopathy, lactic acidosis, and sideroblastic anemia 2" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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