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GTR Home > Conditions/Phenotypes > Lethal infantile mitochondrial myopathy

Lethal infantile mitochondrial myopathy

Synonyms
Infantile Myopathy and Lactic Acidosis (Fatal and Non-Fatal Forms)
Modes of inheritance
Mitochondrial inheritance (Orphanet)

Summary

A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. [from SNOMEDCT_US]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTTT, TRNT
    Summary: mitochondrially encoded tRNA threonine

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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