Nature

Quantification of Mitochondrial DNA Carrying the tRNA 8344 Lys Point Mutation in Myoclonus Epilepsy and Ragged-Red-Fiber Disease

Myoclonus epilepsy with ragged-red fibers (MERRF) is a progressive encephalomyopathy characterized by myoclonia, seizures, ataxia and dementia as well as ragged-red fibers in the Gomori trichrome ...
SciELO

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized ...
casereports.bmj

Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome

We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are ...
Frontiers

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

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 ...
Original paper

Diagnosing MERRF requires clinical and genetic evidence

With interest we read the article by Felczak et al. about the clinical and ultrastructural muscle biopsy findings in a 30 years old female with putative MERRF syndrome due to the variant m.8344A>G ...
The Straits Times

Living with growing muscle weakness, movement challenges and seizures

SINGAPORE – The swelling in her legs persisted for over a week, so Abigail Chua, then 13, went to the doctor and was put through a battery of tests to get to its root cause. After two weeks of scans ...