U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Synonyms
MYOPATHY, MITOCHONDRIAL, AND ATAXIA

Summary

Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LST005, MMYAT, MST, MSTO1
    Summary: misato mitochondrial distribution and morphology regulator 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.