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GTR Home > Conditions/Phenotypes > MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10

Summary

Multiple mitochondrial dysfunctions syndrome-10 (MMDS10) is an autosomal recessive disorder characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. Patients have CNS symptoms, including learning difficulties and neurobehavioral comorbidities (Maio et al., 2024). For a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CIA1, MMDS10, WDR39, CIAO1
    Summary: cytosolic iron-sulfur assembly component 1

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