MERRF

(mĕrf),

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

Farlex Partner Medical Dictionary © Farlex 2012

MERRF

Myoclonus Epilepsy with Ragged Red Fibers Neurology A mitochondrial myopathy characterized by myoclonus, epilepsy and ataxia, maternal inheritance. See Ragged red fibers. Cf MELAS.

MERRF

(mĕrf)

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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References in periodicals archive

Between 2003 and 2016, 17 patients with MERRF qualified for this study from the Department of Neurology of Qilu Hospital of Shandong University, which consisted of 10 men and 7 women.

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation

Lott et al., "Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease," Cell, vol.

Artificial Mitochondria Transfer: Current Challenges, Advances, and Future Applications

Observations that mitochondrial dysfunction occurs in common neurodegenerative diseases actually predate by several decades the realization that disorders such as MELAS, MERRF, and LHON are mitochondrial cytopathies.

Mitochondrial DNA-related mitochondrial dysfunction in neurodegenerative disease. (Advances in the Science of Pathology)

Among 123 mitochondrial myopathy/encephalomyopathy cases in our center, there are three cases occurred in scoliosis, including two cases of mitochondrial myopathy and one case of MERRF - this indicates that scoliosis and skeleton deformity are rarely seen in myopathy/encephalomyopathy.

Reply to 'Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers'

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

High-sensitivity detection of the A3243G mutation of mitochondrial DNA by a combination of allele-specific PCR and peptide nucleic acid-directed PCR clamping

Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle.

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

Mitochondrial disorders - include MELAS and MERRF which are transmitted by the mother and intractable.

Sorting out seizures: it is important for the epilepsy team to be well informed about the semiology of the seizures. Semiology means what the seizure looks like--how it starts, how it progresses, whether the patient is alert or not

It therefore eliminates the need to synthesize expensive fluorescent probes and can be easily expanded for the analysis of other common mtDNA mutations, such as A8344G for the MERRF (myoclonic epilepsy and ragged red fiber) syndrome, T8993G and T8993C for NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome, and the detection of homoplasmic LHON (Leber hereditary optic neuropathy) mutations.

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

'Myo-cardiomyopathy' is commonly associated with the A8344G 'MERRF' mutation.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis