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Pronunciation: merf

Definition: Acronym for myoclonic epilepsy with ragged red fiber myopathy. One of the mitochondrial disorders, this condition is caused by a point mutation of the mitochondria genome locus 8344, where transfer RNA is coded.

Synonym(s): myoclonic epilepsy with ragged red fiber myopathy

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.