AUTHOR=Park Sun Yeong , Kim Se Hoon , Lee Young-Mock 

TITLE=Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers

JOURNAL=Frontiers in Neurology

VOLUME=8

YEAR=2017

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2017.00520

DOI=10.3389/fneur.2017.00520

ISSN=1664-2295

ABSTRACT=<p>Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease’s natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.</p>