KEGG DISEASE: Myoclonic Epilepsy and Ragged-Red Fiber Disease

KEGG

DISEASE: Myoclonic Epilepsy and Ragged-Red Fiber Disease

Entry

H01356                      Disease

Name

Myoclonic Epilepsy and Ragged-Red Fiber Disease;
MERRF syndrome;
Fukuhara syndrome

Supergrp

Progressive myoclonic epilepsy [DS:H00810]
Mitochondrial disease [DS:H01427]

Description

Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy. RRFs are muscle fibers with subsarcolemmal mitochondria that stained red with Gomori trichrome stain. The MERRF syndrome is most commonly caused by the A8344G mutation in the mitochondrial tRNA Lys gene.

Category

Inherited metabolic disorder, Mitochondrial disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H01356  Myoclonic Epilepsy and Ragged-Red Fiber Disease

Pathway

Aminoacyl-tRNA biosynthesis

Oxidative phosphorylation

Gene

TRNK [HSA:4566] [KO:K14229]
TRNL1 [HSA:4567] [KO:K14228]
TRNH [HSA:4564] [KO:K14226]
TRNS1 [HSA:4574] [KO:K14233]
TRNS2 [HSA:4575] [KO:K14233]
TRNI [HSA:4565] [KO:K14227]
TRNF [HSA:4558] [KO:K14231]
TRNP [HSA:4571] [KO:K14232]
MTND5 [HSA:4540] [KO:K03883]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Noer AS, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S

Title

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Journal

Am J Hum Genet 49:715-22 (1991)

Reference

Authors

Liu K, Zhao H, Ji K, Yan C

Title

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

Journal

Metab Brain Dis 29:139-44 (2014)
DOI:10.1007/s11011-013-9464-5

LinkDB

» Japanese version

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