MCID: PRG039
MIFTS: 40

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Categories: Genetic diseases

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 57
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 75 73
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29 6
Chronic Progressive External Ophthalmoplegia 75 73
Peoa3 57 75
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 3 40
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 13
Progressive External Ophthalmoplegia, Autosomal Dominant 3 57
Progressive External Ophthalmoplegia Autosomal Dominant 3 75
Ocular Myopathy of Von Graefe-Fuchs 75
Mitochondrial Ocular Myopathy 75
Kearns-Sayre Syndrome 73
Graefe Disease 75
Cpeo 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (20 to 40 years)
early onset has rarely been reported
highly variable organ involvement and severity
c10orf2 mutations account for approximately 35% of all peo cases


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 57 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002). (609286)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is TWNK (Twinkle MtDNA Helicase). Affiliated tissues include skeletal muscle, eye and thyroid, and related phenotypes are hypogonadism and ptosis

UniProtKB/Swiss-Prot : 75 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 12.7
2 kearns-sayre syndrome 12.1
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.8
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
6 maternally-inherited progressive external ophthalmoplegia 11.6
7 strabismus 11.4
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.4
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.2
10 ocular muscular dystrophy 11.2
11 ptosis 10.3
12 myopathy 10.3
13 mitochondrial myopathy 10.1
14 optic nerve disease 10.1
15 neuropathy 10.1
16 multiple sclerosis 10.0
17 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
19 retinitis 10.0
20 mitochondrial metabolism disease 10.0
21 mitochondrial disorders 10.0
22 atrial standstill 1 9.8
23 huntington disease 9.8
24 hypercholesterolemia, familial 9.8
25 macular dystrophy, dominant cystoid 9.8
26 retinitis pigmentosa 9.8
27 aging 9.8
28 focal segmental glomerulosclerosis 1 9.8
29 leber congenital amaurosis 4 9.8
30 focal segmental glomerulosclerosis 9.8
31 keratopathy 9.8
32 motor neuron disease 9.8
33 atrioventricular block 9.8
34 third-degree atrioventricular block 9.8
35 sensorineural hearing loss 9.8
36 esophagitis 9.8
37 pharyngitis 9.8
38 macular retinal edema 9.8
39 intracranial hypotension 9.8
40 neuronitis 9.8
41 exophthalmos 9.8
42 encephalopathy 9.8

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:



Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Symptoms & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
cataracts (less common)

Laboratory Abnormalities:
increased serum lactate

Neurologic Behavioral Psychiatric Manifestations:
depression
avoidant personality

Head And Neck Ears:
progressive hearing loss (in some)

Abdomen Gastrointestinal:
dysphagia, late-onset

Endocrine Features:
diabetes mellitus (less common)
premature ovarian failure (less common)
hypogonadism (less common)
thyroid disease (less common)

Muscle Soft Tissue:
fatigue
exercise intolerance
limb muscle weakness
proximal muscle weakness
ragged red fibers
more
Neurologic Central Nervous System:
cerebral atrophy
seizures (uncommon)
psychomotor retardation
parkinsonism has been described in 1 family
gait difficulties, late-onset
more
Neurologic Peripheral Nervous System:
hypo- or areflexia
axonal sensory neuropathy (less common)

Cardiovascular Heart:
bradycardia (less common)
arrhythmias (less common)
cardiomyopathy (less common)

Voice:
dysphonia, late-onset


Clinical features from OMIM:

609286

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 occasional (7.5%) HP:0000135
2 ptosis 32 HP:0000508
3 cataract 32 occasional (7.5%) HP:0000518
4 progressive external ophthalmoplegia 32 HP:0000590
5 depressivity 32 HP:0000716
6 dementia 32 HP:0000726
7 diabetes mellitus 32 occasional (7.5%) HP:0000819
8 abnormality of the thyroid gland 32 occasional (7.5%) HP:0000820
9 seizures 32 occasional (7.5%) HP:0001250
10 dysarthria 32 occasional (7.5%) HP:0001260
11 global developmental delay 32 HP:0001263
12 hyporeflexia 32 HP:0001265
13 areflexia 32 HP:0001284
14 gait disturbance 32 HP:0001288
15 parkinsonism 32 very rare (1%) HP:0001300
16 dysphonia 32 HP:0001618
17 cardiomyopathy 32 occasional (7.5%) HP:0001638
18 bradycardia 32 occasional (7.5%) HP:0001662
19 progressive hearing impairment 32 occasional (7.5%) HP:0001730
20 dysphagia 32 HP:0002015
21 cerebral atrophy 32 HP:0002059
22 increased serum lactate 32 HP:0002151
23 ragged-red muscle fibers 32 HP:0003200
24 progressive muscle weakness 32 HP:0003323
25 myalgia 32 HP:0003326
26 sensory axonal neuropathy 32 occasional (7.5%) HP:0003390
27 emg 32 HP:0003458
28 exercise intolerance 32 HP:0003546
29 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
30 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
31 multiple mitochondrial dna deletions 32 HP:0003689
32 limb muscle weakness 32 HP:0003690
33 proximal muscle weakness 32 HP:0003701
34 premature ovarian insufficiency 32 occasional (7.5%) HP:0008209
35 sensory ataxia 32 HP:0010871
36 fatigue 32 HP:0012378

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:


cerebellar ataxia, seizures, muscle weakness, ophthalmoplegia, fatigue, myalgia, ataxia, sensory

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29 TWNK

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

41
Skeletal Muscle, Eye, Thyroid, Retina, Brain, Skin, Heart

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

(show top 50) (show all 164)
# Title Authors Year
1
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. ( 29300676 )
2018
2
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. ( 29333908 )
2018
3
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. ( 29582258 )
2018
4
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. ( 29310369 )
2017
5
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
6
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
7
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
8
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. ( 29398297 )
2017
9
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
10
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. ( 29156062 )
2017
11
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. ( 29246868 )
2017
12
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
13
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
14
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
15
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
16
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
17
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
18
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
19
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
20
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
21
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
22
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
23
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
24
Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial Myopathy Presenting With Chronic Progressive External Ophthalmoplegia (CPEO): A Case Report. ( 25299315 )
2014
25
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
26
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
27
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
28
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. ( 23266267 )
2013
29
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2013
30
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012
31
Sleep disturbances in chronic progressive external ophthalmoplegia. ( 21819490 )
2012
32
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. ( 23024221 )
2012
33
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. ( 22743145 )
2012
34
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. ( 21292040 )
2011
35
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. ( 21249588 )
2011
36
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. ( 21156440 )
2011
37
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. ( 21399928 )
2011
38
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. ( 21533826 )
2011
39
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. ( 21236670 )
2011
40
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. ( 20884012 )
2011
41
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). ( 22166510 )
2011
42
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. ( 20192704 )
2010
43
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. ( 21045517 )
2010
44
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). ( 20149659 )
2010
45
The management of strabismus in patients with chronic progressive external ophthalmoplegia. ( 20521878 )
2010
46
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. ( 20576783 )
2010
47
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. ( 20810132 )
2010
48
Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. ( 19428252 )
2009
49
Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. ( 19172512 )
2009
50
Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. ( 19300161 )
2009

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

75 (show all 29)
# Symbol AA change Variation ID SNP ID
1 TWNK p.Arg303Trp VAR_023647
2 TWNK p.Trp315Leu VAR_023648 rs111033575
3 TWNK p.Lys319Glu VAR_023649 rs80356543
4 TWNK p.Lys319Thr VAR_023650
5 TWNK p.Pro335Leu VAR_023652
6 TWNK p.Arg354Pro VAR_023653 rs111033576
7 TWNK p.Ala359Thr VAR_023654 rs111033573
8 TWNK p.Ile367Thr VAR_023655
9 TWNK p.Ser369Pro VAR_023657
10 TWNK p.Ser369Tyr VAR_023658 rs111033579
11 TWNK p.Arg374Gln VAR_023659
12 TWNK p.Leu381Pro VAR_023660 rs111033577
13 TWNK p.Trp474Cys VAR_023661 rs111033574
14 TWNK p.Ala475Pro VAR_023662 rs111033572
15 TWNK p.Arg303Gln VAR_065102 rs137852956
16 TWNK p.Trp315Ser VAR_065103
17 TWNK p.Arg334Pro VAR_065105
18 TWNK p.Arg357Pro VAR_065106
19 TWNK p.Ala362Pro VAR_065108
20 TWNK p.Trp363Leu VAR_065109
21 TWNK p.Phe370Cys VAR_065110
22 TWNK p.Phe370Leu VAR_065111 rs863223920
23 TWNK p.Ser426Asn VAR_065112
24 TWNK p.Gln458His VAR_065113
25 TWNK p.Ala460Pro VAR_065114
26 TWNK p.Trp474Ser VAR_065115 rs11542127
27 TWNK p.Ala475Asp VAR_065116
28 TWNK p.Phe478Ile VAR_065117
29 TWNK p.Glu479Lys VAR_065118

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK TWNK, 39-BP DUP duplication Pathogenic
2 TWNK NM_021830.4(TWNK): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs111033572 GRCh37 Chromosome 10, 102749580: 102749580
3 TWNK NM_021830.4(TWNK): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs111033572 GRCh38 Chromosome 10, 100989823: 100989823
4 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
5 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh38 Chromosome 10, 100989285: 100989285
6 TWNK NM_021830.4(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 GRCh37 Chromosome 10, 102749579: 102749579
7 TWNK NM_021830.4(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 GRCh38 Chromosome 10, 100989822: 100989822
8 TWNK NM_021830.4(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 GRCh37 Chromosome 10, 102748911: 102748911
9 TWNK NM_021830.4(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 GRCh38 Chromosome 10, 100989154: 100989154
10 TWNK NM_021830.4(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 GRCh37 Chromosome 10, 102749028: 102749028
11 TWNK NM_021830.4(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 GRCh38 Chromosome 10, 100989271: 100989271
12 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
13 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh38 Chromosome 10, 100989352: 100989352
14 TWNK NM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 GRCh37 Chromosome 10, 102749073: 102749073
15 TWNK NM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 GRCh38 Chromosome 10, 100989316: 100989316
16 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh37 Chromosome 10, 102748922: 102748922
17 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh38 Chromosome 10, 100989165: 100989165
18 TWNK NM_021830.4(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 GRCh37 Chromosome 10, 102748875: 102748875
19 TWNK NM_021830.4(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 GRCh38 Chromosome 10, 100989118: 100989118
20 TWNK NM_021830.4(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs267606682 GRCh37 Chromosome 10, 102749087: 102749087
21 TWNK NM_021830.4(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs267606682 GRCh38 Chromosome 10, 100989330: 100989330

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

GO Terms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....