MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements ...

BACKGROUND Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. OBJECTIVE To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient Cas...

The m.8344A>G mutation in the mt-tRNA(Lys) gene, first described in myoclonic epilepsy and ragged red fibers (MERRF), accounts for approximately 80% of mutations in individuals with MERRF syndrome. Although originally described in families with a classical syndrome of myoclonus, ataxia, epilepsy and ragged red fibers in muscle biopsy, the m.8344A>G mutation is increasingly recognised to exhibit...

Myoclonic epilepsy with ragged red fibers (MERRF) is a maternally inherited disease characterized by myoclonic epilepsy, cerebellar ataxia and progressive muscle weakness. Development of the associated most common (90% cases) point mutation at position 8344 in mitochondrial lysine transport RNA gene – MTTLys . The diagnostics causes certain difficulties due to insufficient awareness this pathol...

Myoclonic epilepsy with ragged-red fibers is a maternally inherited disease that is characterized by myoclonic epilepsy, cerebellar ataxia and progressive muscular weakness. The present study reports the case of a 25-year-old male who presented with paroxysmal left upper limb tics and weakness for two years. Neurological examination revealed intact cranial nerves, decreased deep tendon reflexes...