MERRF: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
MERRF: clinical features. MERRF is usually caused by an A-G substitution in the mitochondrial DNA tRNA gene. Fully referenced neurology checklist.
Genetics
- MERRF is usually caused by an A-G substitution in the mitochondrial DNA tRNA gene
- It may also be a T-C or a G-A substitution
- The transmission is maternal
- It may manifest as an overlap syndrome with MELAS
Defining neurological features: seizures
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Defining neurological features: others
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MERRF plus: neurological features
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MERRF plus: systemic features
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MERRF overlap syndromes
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Differential diagnosis: progressive myoclonic epilepsies (PMEs)
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Differential diagnosis: others
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Acronym
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References
- Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
- Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
- Liu K, Zhao H, Ji K, Yan C. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. Metab Brain Dis 2014; 29:139-144.
- Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. J Med Genet 2010; 47:659-664.
- Finsterer J. A review of the advances in the medical management of epilepsy associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome. Cureus 2025; 17:e82875.
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