MERRF syndrome

(redirected from Ragged red fiber)
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MERRF syndrome

 
myoclonus with epilepsy and ragged red fibers; a familial type of mitochondrial encephalopathy, of maternal (mitochondrial) inheritance.

MERRF syndrome

abbreviation for myoclonus with epilepsy and with ragged red fibers, a familial syndrome of maternal (mitochondrial) inheritance. Also called Fukuhara's syndrome.
References in periodicals archive ?
Ragged red fibers, defined by increased peripheral rim of eosinophilic-staining granular material on the trichrome stain, were noted in 4 biopsies (15%).
The most common point mutations are A3243G, accounting for 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); A8344G, which underlies myoclonic epilepsy, ragged red fibers (MERRF); T8993G/C, leading to neuropathy, ataxia, retinitis pigmentosa (NARP); and G11778A, found in >50% of patients with Leber hereditary optic neuropathy (LHON).
The clinical phenotype of patients with A3243G overlaps with that of patients with A8344G in that they may both have ragged red fibers and lactic acidosis.