BACKGROUND:Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ...

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 ...

Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disease that is characterized by myoclonic epilepsy with ragged red fibers (RRF) in muscle biopsies. The aim of this study was to ...

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 ...

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 ...

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 ...

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 ...

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 ...

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