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 ...

1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...

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 ...

Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a mitochondrial disorder characterized by myoclonus epilepsy, generalized seizures, ataxia and myopathy. MERRF syndrome is primarily due ...

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 ...

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 ...

Myoclonic epilepsy with ragged red fibers (MERRF)https://lnkd.in/gV26ypep is a rare but clinically https://lnkd.in/g8H2ZTDb significant mitochondrial ...

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 ...

Mitochondrial diseases are clinically and genetically a very heterogeneous disorder group. Some mitochondrial disorders only affect a single organ, such as the eye in Leber hereditary optic neuropathy ...