MERRF: clinical features

Evidence-based neurology checklist on merrf: clinical features: 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…

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

Defining neurological features: others

MERRF plus: neurological features

MERRF plus: systemic features

MERRF overlap syndromes

Differential diagnosis: progressive myoclonic epilepsies (PMEs)

Differential diagnosis: others

Acronym

References

  1. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
  2. Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
  3. 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.
  4. 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.
  5. 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.
  6. And 4 more. Subscribe to see the full list

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