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Medical MERF abbreviation meaning defined here. What does MERF stand for in Medical? Get the most popular MERF abbreviation related to Medical.
16 Ιουλ 2023 · Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem mitochondrial syndrome characterized by progressive myoclonus and seizures. Other features associated with MERRF include cerebellar ataxia, myopathy, cardiac arrhythmia, sensorineural hearing loss, optic atrophy, and dementia.
MERRF. (mĕrf), Acronym for m yoclonic e pilepsy with r agged r ed f iber myopathy. One of the mitochondrial disorders, this condition is caused by a point mutation of the mitochondria genome locus 8344, where transfer RNA is coded. Synonym (s): myoclonic epilepsy with ragged red fiber myopathy.
14 Ιουν 2021 · Learn about MERRF Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and.
3 Ιουν 2003 · MERRF (m yoclonic e pilepsy with r agged r ed f ibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, occurring after normal early development. Common findings are ptosis, hearing ...
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. ORPHA:551. Classification level: Disorder. Synonym (s): Fukuhara syndrome. Myoclonus epilepsy associated with ragged-red fibres. Prevalence: Unknown.
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad range of clinical manifestations (Table 1) and a less heterogeneous genotype [1].