MERRF
MCID: MYC072
MIFTS: 47

Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)

Categories: Eye diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards integrated aliases for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 56 25
Merrf Syndrome 56 12 52 25 43 15 71
Merrf 56 24 52 25 58 54
Myoclonus with Epilepsy with Ragged Red Fibers 29 6 39
Fukuhara Syndrome 12 52 58
Myoclonic Epilepsy Associated with Ragged Red Fibers 24 52
Myoencephalopathy Ragged-Red Fiber Disease 52 25
Myoclonus Epilepsy Associated with Ragged-Red Fibres 58
Myoclonus with Epilepsy and with Ragged Red Fibers 12
Myoclonic Epilepsy and Ragged-Red Fiber Disease 36
Myoclonic Epilepsy with Ragged Red Fibers 52
Myoclonic Epilepsy with Ragged-Red Fibers 25
Myoclonus Epilepsy and Ragged Red Fibers 12
Myoclonic Epilepsy - Ragged Red Fibers 12
Fukuhara Disease 25

Characteristics:

Orphanet epidemiological data:

58
merrf
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood;

OMIM:

56
Inheritance:
mitochondrial.


HPO:

31
myoclonic epilepsy associated with ragged-red fibers:
Inheritance mitochondrial inheritance


GeneReviews:

24
Penetrance See genotype-phenotype correlations.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:310
OMIM 56 545000
KEGG 36 H01356
MeSH 43 D017243
NCIt 49 C84889
SNOMED-CT 67 57254004 68448003
ICD10 32 E88.42
MESH via Orphanet 44 D017243
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C0162672
Orphanet 58 ORPHA551
MedGen 41 C0162672
UMLS 71 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Genetics Home Reference : 25 Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, called lipomas, just under the surface of the skin.

MalaCards based summary : Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and mitochondrial disorders. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TK (Mitochondrially Encoded TRNA-Lys (AAA/G)), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are ataxia and sensorineural hearing impairment

NIH Rare Diseases : 52 Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus , which is often the first symptom, followed by generalized epilepsy , ataxia , weakness, and dementia . Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss , short stature , optic atrophy , and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome . The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK . Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.

KEGG : 36 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.

Wikipedia : 74 MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is... more...

More information from OMIM: 545000
GeneReviews: NBK1520

Related Diseases for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.6 TWNK NPTX2 MT-TS2 MT-TS1 MT-TQ MT-TP
2 mitochondrial disorders 31.7 TWNK MT-TL1 MT-TK MT-ND5 COX5A
3 parkinson disease, mitochondrial 31.7 MT-TP MT-TK
4 early myoclonic encephalopathy 31.4 SDHB NPTX2 MT-TL1 MT-TK MT-ND5 MT-ND4
5 lipomatosis 31.4 SDHB MT-TK COX5A
6 mitochondrial metabolism disease 31.3 TWNK SOD2 SDHB NPTX2 MT-TL1 MT-TK
7 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TK
8 lactic acidosis 31.2 MT-TS1 MT-TL1 MT-TK MT-TI MT-TH MT-TF
9 leigh syndrome 31.1 TWNK SDHB NPTX2 MT-TS1 MT-TL1 MT-TK
10 mitochondrial myopathy 31.1 TWNK SDHB NPTX2 MT-TS1 MT-TL1 MT-TK
11 kearns-sayre syndrome 31.0 TWNK SDHB NPTX2 MT-TL1 MT-TK MT-TI
12 3-methylglutaconic aciduria, type iii 31.0 TWNK NPTX2 MT-TL1 MT-TK MT-ND4
13 neuropathy 30.9 TWNK MT-ND5 MT-ND4 DCAF8
14 mitochondrial encephalomyopathy 30.8 TWNK SOD2 NPTX2 MT-TS1 MT-TL1 MT-TK
15 chronic progressive external ophthalmoplegia 30.8 TWNK SOD2 SDHB NPTX2 MT-TL1 MT-TK
16 peripheral nervous system disease 30.6 TWNK NPTX2 MT-TK MT-ND4 DCAF8
17 muscular disease 30.4 TWNK NPTX2 MT-TQ MT-TP MT-TL1 MT-TK
18 myoclonic epilepsy of unverricht and lundborg 11.5
19 myoclonus 10.8
20 myoclonus epilepsy 10.7
21 mitochondrial dna-related progressive external ophthalmoplegia 10.7 MT-TS1 MT-TL1
22 nonsyndromic hearing loss and deafness, mitochondrial 10.7 MT-TS1 MT-RNR1
23 diphyllobothriasis 10.6 MT-TS2 MT-ND5
24 pthirus pubis infestation 10.6 MT-TQ MT-TI MT-TH
25 deafness, aminoglycoside-induced 10.6 MT-TS1 MT-RNR1
26 coenurosis 10.6 MT-TS2 MT-TQ
27 lice infestation 10.6 MT-TQ MT-TI MT-TH
28 deafness, nonsyndromic sensorineural, mitochondrial 10.6 MT-TS1 MT-TI MT-TH MT-RNR1
29 myotonic cataract 10.6 TWNK NPTX2 MT-TK
30 ataxia and polyneuropathy, adult-onset 10.6
31 parasitic ectoparasitic infectious disease 10.6 MT-TQ MT-TI MT-TH MT-ND5
32 mitochondrial non-syndromic sensorineural deafness 10.6 MT-TS1 MT-TH MT-RNR1 MT-ND4
33 neonatal period electroclinical syndrome 10.6 NPTX2 MT-TK MT-ND4
34 deafness, autosomal dominant 51 10.6 MT-TS1 MT-RNR1
35 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 10.6 NPTX2 MT-TK
36 wolff-parkinson-white syndrome 10.6 MT-TL1 MT-ND5 MT-ND4
37 superficial mycosis 10.6 MT-TH DCAF8
38 ocular motility disease 10.6 TWNK NPTX2 MT-TK MT-ND4
39 x-linked nonsyndromic deafness 10.5 MT-TS1 MT-RNR1
40 pearson marrow-pancreas syndrome 10.5 TWNK NPTX2 MT-TL1 MT-TK MT-ND4
41 retinitis pigmentosa 12 10.5 MT-TI MT-TH
42 cranial nerve disease 10.5 TWNK NPTX2 MT-TK MT-ND5 MT-ND4
43 optic nerve disease 10.5 TWNK NPTX2 MT-TK MT-ND5 MT-ND4
44 hereditary optic neuropathy 10.5 MT-ND5 MT-ND4
45 myasthenic syndrome, congenital, 10 10.5 MT-TH MT-TF
46 hermaphroditism 10.4 MT-TH MT-TF
47 encephalopathy 10.4
48 aceruloplasminemia 10.4
49 branchiootic syndrome 1 10.4
50 epilepsy 10.3

Graphical network of the top 20 diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:



Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers

Symptoms & Phenotypes for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Human phenotypes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
6 generalized myoclonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002123
7 ragged-red muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003200
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
10 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
11 multiple lipomas 58 31 frequent (33%) Frequent (79-30%) HP:0001012
12 seizures 31 HP:0001250
13 spasticity 31 HP:0001257
14 muscle weakness 31 HP:0001324
15 myoclonus 31 HP:0001336
16 increased serum lactate 31 HP:0002151
17 increased serum pyruvate 31 HP:0003542

Symptoms via clinical synopsis from OMIM:

56
Neuro:
myoclonus epilepsy. ataxia. spasticity.

Ears:
sensorineural hearing loss.

Muscle:
muscle weakness. myopathy.

Lab:
ragged-red muscle fibers. serum pyruvate or pyruvate and lactate elevated. defect in translation of all mtdna-encoded genes.

Clinical features from OMIM:

545000

Drugs & Therapeutics for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Drugs for Myoclonic Epilepsy Associated with Ragged-Red Fibers (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cochrane evidence based reviews: merrf syndrome

Genetic Tests for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Genetic tests related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

# Genetic test Affiliating Genes
1 Myoclonus with Epilepsy with Ragged Red Fibers 29 MT-TF MT-TI MT-TK MT-TL1 MT-TP

Anatomical Context for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards organs/tissues related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

40
Eye, Heart, Brain, Skin, Skeletal Muscle, Cerebellum, Adipocyte

Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Articles related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

(show top 50) (show all 192)
# Title Authors PMID Year
1
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. 61 24 56 6
15184630 2004
2
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. 61 56 6
8447321 1993
3
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 54 24 6
15767514 2005
4
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. 56 6
8069654 1993
5
Mitochondrial genetics: principles and practice. 56 6
1463005 1992
6
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. 56 6
2112427 1990
7
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 24 6
20610441 2010
8
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. 24 56
19273760 2009
9
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 24 6
17200493 2007
10
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 24 56
14967777 2004
11
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. 24 6
14681892 2003
12
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. 24 56
1848674 1991
13
Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency. 61 6
27155576 2016
14
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. 54 61 24
17275787 2007
15
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 61 6
10699170 2000
16
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. 61 6
7647790 1995
17
Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. 61 6
8198140 1994
18
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. 61 6
8264702 1994
19
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). 61 6
8170567 1993
20
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). 61 6
1361099 1992
21
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. 61 6
1487239 1992
22
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). 61 6
1661776 1991
23
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. 61 6
1910259 1991
24
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. 61 24
25361775 2014
25
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation. 61 24
24792523 2014
26
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 61 24
23635963 2013
27
Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation. 61 24
22270878 2012
28
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation. 61 24
21996807 2011
29
Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. 6
20581069 2010
30
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. 61 24
18657354 2008
31
Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome. 6
17878308 2007
32
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. 61 24
17293137 2007
33
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 6
17400793 2007
34
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. 61 24
16551460 2006
35
Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. 61 24
12784281 2003
36
MERRF 6
20301693 2003
37
Mitochondrial Disorders Overview 6
20301403 2000
38
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. 6
9674814 1998
39
The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. 6
9529371 1998
40
Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus. 6
9506761 1998
41
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 6
8602753 1996
42
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 56
7669057 1995
43
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? 6
8254046 1993
44
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. 6
8513395 1993
45
Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease. 6
8069655 1993
46
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). 6
1334369 1992
47
Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins. 6
1324294 1992
48
Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF). 56
1666407 1991
49
Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. 6
1910341 1991
50
Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 6
1678125 1991

Variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers

ClinVar genetic disease variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TI NC_012920.1:m.4279A>GSNV Pathogenic 180710 rs797044543 MT:4279-4279 MT:4279-4279
2 MT-TP m.15967G>ASNV Pathogenic 9572 rs199474701 MT:15967-15967 MT:15967-15967
3 MT-TF m.611G>ASNV Pathogenic 9574 rs118203886 MT:611-611 MT:611-611
4 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
5 MT-TK m.8356T>CSNV Pathogenic 9580 rs118192099 MT:8356-8356 MT:8356-8356
6 MT-TK m.8363G>ASNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363
7 MT-TK m.8361G>ASNV Pathogenic 9585 rs118192104 MT:8361-8361 MT:8361-8361
8 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
9 MT-TL1 m.3271T>CSNV Pathogenic 9590 rs199474658 MT:3271-3271 MT:3271-3271
10 MT-TL1 m.3256C>TSNV Pathogenic 9591 rs199474659 MT:3256-3256 MT:3256-3256
11 MT-ND5 m.13042G>ASNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042
12 MT-TI m.4284G>ASNV Likely pathogenic 9604 rs121434468 MT:4284-4284 MT:4284-4284
13 MT-TP , MT-TT m.15923A>GSNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923

Expression for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Search GEO for disease gene expression data for Myoclonic Epilepsy Associated with Ragged-Red Fibers.

Pathways for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Pathways related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Oxidative phosphorylation hsa00190

Pathways related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 MT-TS2 MT-TS1 MT-TQ MT-TP MT-TL1 MT-TK

GO Terms for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cellular components related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.43 SDHB MT-ND5 MT-ND4 MRPL44 CPOX COX5A
2 mitochondrion GO:0005739 9.28 TWNK SOD2 SDHB MT-ND5 MT-ND4 MRPL44

Biological processes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.35 SOD2 SDHB MT-ND5 MT-ND4 CPOX
2 aerobic respiration GO:0009060 9.16 SDHB MT-ND4
3 ATP synthesis coupled electron transport GO:0042773 8.62 MT-ND5 MT-ND4

Molecular functions related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 8.96 MT-ND5 MT-ND4
2 ubiquinone binding GO:0048039 8.62 SDHB MT-ND4

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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