MERRF
MCID: MYC072
MIFTS: 44

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 57 43
Merrf Syndrome 57 12 20 43 29 6 44 15 70
Merrf 57 25 20 43 58 54
Fukuhara Syndrome 12 20 58
Myoclonic Epilepsy Associated with Ragged Red Fibers 25 20
Myoencephalopathy Ragged-Red Fiber Disease 20 43
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
Myoclonus with Epilepsy with Ragged Red Fibers 39
Myoclonic Epilepsy with Ragged Red Fibers 20
Myoclonic Epilepsy with Ragged-Red Fibers 43
Myoclonus Epilepsy and Ragged Red Fibers 12
Myoclonic Epilepsy - Ragged Red Fibers 12
Fukuhara Disease 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
mitochondrial.


HPO:

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


GeneReviews:

25
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® 57 545000
KEGG 36 H01356
MeSH 44 D017243
NCIt 50 C84889
SNOMED-CT 67 68448003
ICD10 32 E88.42
MESH via Orphanet 45 D017243
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 71 C0162672
Orphanet 58 ORPHA551
MedGen 41 C0162672
UMLS 70 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MedlinePlus Genetics : 43 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 early myoclonic encephalopathy. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are ataxia and sensorineural hearing impairment

GARD : 20 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 : 73 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 135)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.8 POLG MT-TS2 MT-TS1 MT-TQ MT-TP MT-TN
2 early myoclonic encephalopathy 31.3 SDHB POLG MT-TL1 MT-ND5 MT-ATP6 COX5A
3 parkinson disease, mitochondrial 31.2 MT-TP MT-TK
4 parkinson disease, late-onset 31.0 SOD2 POLG MT-TP MT-TK MT-ND5 GLIS1
5 kearns-sayre syndrome 30.9 POLG MT-TL1 MT-ND5 MT-ATP6 COX5A
6 leigh syndrome 30.9 SDHB POLG MT-TS1 MT-TL1 MT-TK MT-TI
7 mitochondrial myopathy 30.9 SDHB POLG MT-TS2 MT-TS1 MT-TL1 MT-TF
8 mitochondrial encephalomyopathy 30.9 SOD2 SDHB POLG MT-TS1 MT-TL1 MT-TK
9 neuropathy 30.8 SOD2 POLG MT-RNR1 MT-ND5 MT-ATP6
10 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 30.8 MT-TS1 MT-TQ MT-TP MT-TN MT-TL1 MT-TK
11 lactic acidosis 30.8 POLG MT-TS2 MT-TS1 MT-TQ MT-TL1 MT-TK
12 mitochondrial dna-associated leigh syndrome and narp 30.8 MT-TL1 MT-TK MT-ND5 MT-ATP6
13 diabetes and deafness, maternally inherited 30.7 MT-TL1 MT-TK
14 mitochondrial complex iv deficiency, nuclear type 1 30.6 MT-TN MT-TL1 COX5A
15 mitochondrial disorders 30.6 SOD2 SDHB POLG MT-TP MT-TN MT-TL1
16 myopathy 30.6 SOD2 SDHB POLG MT-TS2 MT-TS1 MT-TQ
17 optic nerve disease 30.5 SOD2 POLG MT-ND5 MT-ATP6
18 chronic progressive external ophthalmoplegia 30.4 SOD2 SDHB POLG MT-TN MT-TL1 MT-TK
19 mitochondrial dna depletion syndrome 4a 30.2 POLG MT-TF MT-ND5 MT-ATP6 COX5A
20 myoclonic epilepsy of unverricht and lundborg 10.9
21 myoclonus 10.7
22 myoclonus epilepsy 10.6
23 hereditary optic neuropathy 10.5 MT-ND5 MT-ATP6
24 nonsyndromic hearing loss and deafness, mitochondrial 10.5 MT-TS1 MT-RNR1
25 progressive myoclonus epilepsy 9 10.5 MT-TK MT-ND5
26 diphyllobothriasis 10.5 MT-TS2 MT-TL1 MT-ND5
27 myasthenic syndrome, congenital, 10 10.5 MT-TK MT-TH MT-TF
28 mitochondrial dna-related progressive external ophthalmoplegia 10.5 MT-TS1 MT-TN MT-TL1
29 gnathomiasis 10.5 MT-TS2 MT-TN
30 mitochondrial dna-associated leigh syndrome 10.5 MT-TL1 MT-TK MT-ND5 MT-ATP6
31 mental retardation, autosomal dominant 30 10.5 MT-TQ MT-TK MT-TH MT-TF
32 pearson marrow-pancreas syndrome 10.4 POLG MT-TL1 MT-ATP6
33 deafness, nonsyndromic sensorineural, mitochondrial 10.4 MT-TS1 MT-TI MT-TH MT-RNR1
34 retinitis pigmentosa 12 10.4 MT-TN MT-TK MT-TI MT-TH
35 trench fever 10.4 MT-TS2 MT-TN
36 drug-induced hearing loss 10.4 MT-TS1 MT-RNR1
37 intracranial vasospasm 10.4 MT-ND5 MT-ATP6
38 parasitic ectoparasitic infectious disease 10.4 MT-TS1 MT-TQ MT-TI MT-TH MT-ND5
39 dicrocoeliasis 10.4 MT-TS2 MT-TS1 MT-TK MT-ND5 MT-ATP6
40 cranial nerve disease 10.4 POLG MT-ND5 MT-ATP6
41 thelaziasis 10.4 MT-ND5 MT-ATP6
42 mitochondrial neurogastrointestinal encephalomyopathy 10.4 POLG MT-TK
43 ataxia and polyneuropathy, adult-onset 10.4
44 mitochondrial metabolism disease 10.4
45 pthirus pubis infestation 10.4 MT-TS1 MT-TQ MT-TI MT-TH MT-TF MT-ND5
46 lice infestation 10.4 MT-TS1 MT-TQ MT-TI MT-TH MT-TF MT-ND5
47 baylisascariasis 10.4 MT-ND5 MT-ATP6
48 mitochondrial myopathy, infantile, transient 10.4 MT-ND5 MT-ATP6
49 noonan syndrome 1 10.4 MT-TS1 MT-TQ MT-TN MT-TK MT-TI MT-TF
50 noonan syndrome 2 10.4 MT-TI MT-TH

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 18)
# 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 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
5 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
6 ragged-red muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003200
7 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
8 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
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 spasticity 31 HP:0001257
13 muscle weakness 31 HP:0001324
14 myoclonus 31 HP:0001336
15 generalized myoclonic seizures 58 Very frequent (99-80%)
16 increased serum lactate 31 HP:0002151
17 increased serum pyruvate 31 HP:0003542
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Search Clinical Trials , 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 Merrf Syndrome 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, Brain, Skeletal Muscle, Cerebellum, Skin, Prostate

Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

(show top 50) (show all 201)
# Title Authors PMID Year
1
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. 6 25 54 61
17275787 2007
2
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. 61 57 6
15184630 2004
3
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 57 6
8447321 1993
4
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. 61 6 25
16551460 2006
5
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 54 6 25
15767514 2005
6
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. 57 6
8069654 1993
7
Mitochondrial genetics: principles and practice. 6 57
1463005 1992
8
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. 57 6
2112427 1990
9
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 25 6
20610441 2010
10
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. 25 57
1848674 1991
11
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
12
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. 61 6
18657354 2008
13
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. 61 6
17293137 2007
14
Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. 61 6
12784281 2003
15
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 6 61
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). 6 61
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
Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome. 61 25
30238046 2018
25
MERRF Classification: Implications for Diagnosis and Clinical Trials. 25 61
29449072 2018
26
Management of epilepsy in MERRF syndrome. 61 25
28686997 2017
27
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 25 61
23635963 2013
28
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation. 61 25
21996807 2011
29
Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. 6
20581069 2010
30
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. 6
19269823 2009
31
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. 57
19273760 2009
32
Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome. 6
17878308 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
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 6
17200493 2007
35
A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. 6
15164143 2004
36
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 57
14967777 2004
37
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. 6
14681892 2003
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. 57
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). 57
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
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TF m.611G>A SNV Pathogenic 9574 rs118203886 GRCh37: MT:611-611
GRCh38: MT:611-611
2 MT-TK m.8361G>A SNV Pathogenic 9585 rs118192104 GRCh37: MT:8361-8361
GRCh38: MT:8361-8361
3 MT-TK m.8356T>C SNV Pathogenic 9580 rs118192099 GRCh37: MT:8356-8356
GRCh38: MT:8356-8356
4 MT-TL1 m.3256C>T SNV Pathogenic 9591 rs199474659 GRCh37: MT:3256-3256
GRCh38: MT:3256-3256
5 MT-TK m.8363G>A SNV Pathogenic 9581 rs118192100 GRCh37: MT:8363-8363
GRCh38: MT:8363-8363
6 MT-TL1 m.3271T>C SNV Pathogenic 9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
7 MT-TK m.8344A>G SNV Pathogenic 9579 rs118192098 GRCh37: MT:8344-8344
GRCh38: MT:8344-8344
8 MT-ND5 m.13042G>A SNV Pathogenic 9703 rs267606898 GRCh37: MT:13042-13042
GRCh38: MT:13042-13042
9 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243

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
11.57 MT-TS2 MT-TS1 MT-TQ MT-TP MT-TN MT-TL1

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 9.35 SDHB MT-ND5 MT-ATP6 MRPL44 COX5A
2 mitochondrion GO:0005739 9.23 SOD2 SDHB POLG MT-ND5 MT-ATP6 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 response to hyperoxia GO:0055093 8.62 POLG MT-ATP6

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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