MERRF syndrome
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0004675
mitochondrial encephalomyopathy
is_a
MONDO:0020074
progressive myoclonus epilepsy
is_a
Fukuhara syndrome
exact
MERRF
exact
MERRF syndrome
exact
myoclonic epilepsy - ragged red fibres
exact
myoclonic epilepsy associated with ragged red fibers
related
myoclonic epilepsy associated with ragged red fibres
related
myoclonic epilepsy associated with ragged-RED fibers
related
myoclonic epilepsy associated with ragged-RED fibres
related
myoclonic epilepsy with ragged red fibers
related
myoclonic epilepsy with ragged red fibres
related
myoclonus epilepsy and ragged red fibres
exact
myoclonus epilepsy associated with ragged-red fibers
exact
myoclonus epilepsy associated with ragged-red fibres
exact
myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)
exact
myoclonus with epilepsy and with ragged Red fibres
exact
myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)
exact
myoencephalopathy ragged-red fiber disease
related
myoencephalopathy ragged-red fibre disease
related