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.
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8) In addition, most of the vacuolated muscle fibers in h-IBM do not stain positively for Congo red and do not contain ragged red fibers or cytochrome c oxidase-negative fibers.
Male with chronic progressive painless muscle weakness. (Pathologic Quiz Case)
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).
Direct detection of multiple point mutations in mitochondrial DNA
The presence of ragged red fibers or a partial absence of cytochrome C oxidase staining, suggestive of mitochondrial defects, was also documented.
Bcl-2, Bcl-x, and Bax Expression by immunohistochemistry in inclusion body myositis: a study of 27 cases

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