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Progressive external ophthalmoplegia with myoclonus
Cardiomyopathy and Deafness
MERRF/MELAS overlap syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). [from SNOMEDCT_US]
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