MMDO
MCID: MNC011
MIFTS: 37

Minicore Myopathy with External Ophthalmoplegia (MMDO)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Minicore Myopathy with External Ophthalmoplegia

MalaCards integrated aliases for Minicore Myopathy with External Ophthalmoplegia:

Name: Minicore Myopathy with External Ophthalmoplegia 56 52 73 13 71
Multiminicore Disease with External Ophthalmoplegia 56 52 73
Minicore Myopathy 56 29 6
Multicore Myopathy with External Ophthalmoplegia 52 73
Multiminicore Myopathy Multicore Myopathy with External Ophthalmoplegia 56
Congenital Multicore Myopathy with External Ophthalmoplegia 58
Myopathy, Minicore, External Ophthalmoplegia 39
Multicore Myopathy 56
Mmdo 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in neonatal period or early infancy
some patients have lethal fetal akinesia with death in utero
findings in muscle biopsy may be variable


HPO:

31
minicore myopathy with external ophthalmoplegia:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Minicore Myopathy with External Ophthalmoplegia

OMIM : 56 Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002). Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010). (255320)

MalaCards based summary : Minicore Myopathy with External Ophthalmoplegia, also known as multiminicore disease with external ophthalmoplegia, is related to multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism and minicore myopathy, antenatal onset, with arthrogryposis, and has symptoms including generalized muscle weakness, edema and ophthalmoplegia. An important gene associated with Minicore Myopathy with External Ophthalmoplegia is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle and lung, and related phenotypes are feeding difficulties and type 1 muscle fiber atrophy

UniProtKB/Swiss-Prot : 73 Multiminicore disease with external ophthalmoplegia: Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease.

Related Diseases for Minicore Myopathy with External Ophthalmoplegia

Graphical network of the top 20 diseases related to Minicore Myopathy with External Ophthalmoplegia:



Diseases related to Minicore Myopathy with External Ophthalmoplegia

Symptoms & Phenotypes for Minicore Myopathy with External Ophthalmoplegia

Human phenotypes related to Minicore Myopathy with External Ophthalmoplegia:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
2 type 1 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011807
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
5 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
6 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
7 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
10 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
11 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
12 increased connective tissue 58 31 frequent (33%) Frequent (79-30%) HP:0009025
13 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
14 internally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0031237
15 muscle fiber hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100293
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
18 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
19 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
20 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
24 nemaline bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003798
25 rectus femoris muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0040191
26 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
27 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
28 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
29 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
30 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
31 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
32 severe postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008850
33 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
34 shoulder girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003547
35 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
36 difficulty running 58 31 occasional (7.5%) Occasional (29-5%) HP:0009046
37 frog-leg posture 58 31 occasional (7.5%) Occasional (29-5%) HP:0031139
38 tibialis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011399
39 sternocleidomastoid amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012036
40 skeletal muscle atrophy 58 31 Occasional (29-5%) HP:0003202
41 facial palsy 58 31 Frequent (79-30%) HP:0010628
42 muscular hypotonia 31 HP:0001252
43 neonatal hypotonia 31 HP:0001319
44 feeding difficulties in infancy 31 HP:0008872
45 muscle weakness 58 Frequent (79-30%)
46 generalized muscle weakness 31 HP:0003324
47 hydrops fetalis 31 HP:0001789
48 respiratory insufficiency 31 HP:0002093
49 areflexia 31 HP:0001284
50 pulmonary hypoplasia 31 HP:0002089

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Respiratory:
respiratory insufficiency
frequent respiratory infections
lung hypoplasia
respiratory impairment

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
myopathic facies
facial weakness

Neurologic Central Nervous System:
delayed motor development
some patients only achieve sitting

Laboratory Abnormalities:
normal serum creatine kinase

Prenatal Manifestations Movement:
reduced fetal movements

Head And Neck Eyes:
ptosis
external ophthalmoplegia affecting upward and lateral gaze

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
hydrops

Muscle Soft Tissue:
proximal muscle weakness
axial muscle weakness
exercise-induced myalgia
increased connective tissue
muscle weakness, diffuse
more
Skeletal:
ligamentous laxity

Abdomen Gastrointestinal:
poor feeding

Head And Neck Mouth:
high-arched palate (rare)
inverted v-shaped mouth

Clinical features from OMIM:

255320

UMLS symptoms related to Minicore Myopathy with External Ophthalmoplegia:


generalized muscle weakness, edema, ophthalmoplegia, exercise-induced myalgia, facial paresis

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Minicore Myopathy with External Ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

Genetic tests related to Minicore Myopathy with External Ophthalmoplegia:

# Genetic test Affiliating Genes
1 Minicore Myopathy 29 RYR1

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

MalaCards organs/tissues related to Minicore Myopathy with External Ophthalmoplegia:

40
Skeletal Muscle, Lung

Publications for Minicore Myopathy with External Ophthalmoplegia

Articles related to Minicore Myopathy with External Ophthalmoplegia:

(show all 22)
# Title Authors PMID Year
1
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 6 56
25476234 2014
2
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 56 6
20839240 2010
3
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 6 56
18253926 2008
4
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 56 6
16380615 2005
5
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. 56 6
12719381 2003
6
Familial multicore disease with focal loss of cross-striations and ophthalmoplegia. 6 56
7299413 1981
7
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 56
23553787 2013
8
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. 56
22407809 2012
9
Clinical utility gene card for: Multi-minicore disease. 6
22009146 2012
10
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 56
20583297 2010
11
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. 56
19734047 2009
12
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? 6
17226826 2007
13
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 56
17376685 2007
14
Multiminicore Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301467 2003
15
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. 6
12136074 2002
16
80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands. 56
11731287 2002
17
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. 56
11079538 2000
18
Minicore myopathy in children: a clinical and histopathological study of 19 cases. 56
10838253 2000
19
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. 56
9932958 1999
20
Common origin of rods, cores, miniature cores, and focal loss of cross-striations. 56
687182 1978
21
Familial focal loss of cross striations. 56
72134 1977
22
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. 61
30652412 2019

Variations for Minicore Myopathy with External Ophthalmoplegia

ClinVar genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

6 (show top 50) (show all 450) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.7215del (p.Phe2406fs)deletion Pathogenic 561102 rs1568501473 19:38990548-38990548 19:38499908-38499908
2 RYR1 NM_000540.2(RYR1):c.4496_4497del (p.Phe1499fs)deletion Pathogenic 617750 rs1568476203 19:38969115-38969116 19:38478475-38478476
3 RYR1 NM_000540.2(RYR1):c.14647-1449A>GSNV Pathogenic 12987 rs193922886 19:39074134-39074134 19:38583494-38583494
4 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys)SNV Pathogenic 12989 rs118192174 19:38990601-38990601 19:38499961-38499961
5 RYR1 NM_000540.2(RYR1):c.14365-2A>TSNV Pathogenic 12990 rs193922870 19:39070620-39070620 19:38579980-38579980
6 RYR1 NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe)SNV Pathogenic 12991 rs193922836 19:39013751-39013751 19:38523111-38523111
7 RYR1 NM_001042723.2(RYR1):c.1739_1742dup (p.His581fs)duplication Pathogenic 12994 rs193922771 19:38946337-38946338 19:38455697-38455698
8 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
9 RYR1 NM_000540.2(RYR1):c.2097_2123del (p.Glu699_Gly707del)deletion Pathogenic 190957 rs876661306 19:38948856-38948882 19:38458216-38458242
10 RYR1 NM_000540.2(RYR1):c.10347+1G>ASNV Pathogenic/Likely pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
11 RYR1 NM_000540.2(RYR1):c.10348-6C>GSNV Pathogenic/Likely pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
12 RYR1 NM_000540.2(RYR1):c.325C>T (p.Arg109Trp)SNV Pathogenic/Likely pathogenic 12988 rs118192173 19:38934252-38934252 19:38443612-38443612
13 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)SNV drug response 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
14 RYR1 NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)SNV drug response 12976 rs118192176 19:38985219-38985219 19:38494579-38494579
15 RYR1 NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)SNV drug response 12984 rs118192168 19:39071043-39071043 19:38580403-38580403
16 RYR1 NM_000540.2(RYR1):c.9716T>A (p.Met3239Lys)SNV Likely pathogenic 617753 rs371027185 19:39008029-39008029 19:38517389-38517389
17 RYR1 NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)SNV Likely pathogenic 807480 19:38937165-38937165 19:38446525-38446525
18 RYR1 NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)SNV drug response 133193 rs193922809 19:38990615-38990615 19:38499975-38499975
19 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del)short repeat drug response 133180 rs121918596 19:38990285-38990287 19:38499645-38499647
20 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)SNV drug response 133183 rs193922803 19:38990310-38990310 19:38499670-38499670
21 RYR1 NM_000540.2(RYR1):c.1218C>T (p.Thr406=)SNV Conflicting interpretations of pathogenicity 133034 rs3745846 19:38942499-38942499 19:38451859-38451859
22 RYR1 NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)SNV Conflicting interpretations of pathogenicity 133173 rs34390345 19:38989817-38989817 19:38499177-38499177
23 RYR1 NM_000540.2(RYR1):c.13617C>T (p.Gly4539=)SNV Conflicting interpretations of pathogenicity 133052 rs2302296 19:39058515-39058515 19:38567875-38567875
24 RYR1 NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)SNV Conflicting interpretations of pathogenicity 133053 rs193922860 19:39062846-39062846 19:38572206-38572206
25 RYR1 NM_000540.2(RYR1):c.1453A>G (p.Met485Val)SNV Conflicting interpretations of pathogenicity 133076 rs147723844 19:38945887-38945887 19:38455247-38455247
26 RYR1 NM_000540.2(RYR1):c.152C>A (p.Thr51Asn)SNV Conflicting interpretations of pathogenicity 133099 rs193922749 19:38931491-38931491 19:38440851-38440851
27 RYR1 NM_000540.2(RYR1):c.2121C>A (p.Gly707=)SNV Conflicting interpretations of pathogenicity 133111 rs146104858 19:38948886-38948886 19:38458246-38458246
28 RYR1 NM_000540.2(RYR1):c.2712G>A (p.Pro904=)SNV Conflicting interpretations of pathogenicity 133120 rs139339574 19:38954416-38954416 19:38463776-38463776
29 RYR1 NM_000540.2(RYR1):c.2996G>A (p.Arg999His)SNV Conflicting interpretations of pathogenicity 133122 rs180714609 19:38956856-38956856 19:38466216-38466216
30 RYR1 NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr)SNV Conflicting interpretations of pathogenicity 41910 rs147012990 19:39002893-39002893 19:38512253-38512253
31 RYR1 NM_000540.2(RYR1):c.7737G>A (p.Val2579=)SNV Conflicting interpretations of pathogenicity 93290 rs114975624 19:38993269-38993269 19:38502629-38502629
32 RYR1 NM_000540.2(RYR1):c.10097G>A (p.Arg3366His)SNV Conflicting interpretations of pathogenicity 132990 rs137932199 19:39009932-39009932 19:38519292-38519292
33 RYR1 NM_000540.2(RYR1):c.1123-11C>TSNV Conflicting interpretations of pathogenicity 133010 rs3745845 19:38942393-38942393 19:38451753-38451753
34 RYR1 NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys)SNV Conflicting interpretations of pathogenicity 133021 rs147136339 19:39034191-39034191 19:38543551-38543551
35 RYR1 NM_000540.3(RYR1):c.2871-5C>TSNV Conflicting interpretations of pathogenicity 93260 rs45585535 19:38956726-38956726 19:38466086-38466086
36 RYR1 NM_000540.2(RYR1):c.14505G>A (p.Gly4835=)SNV Conflicting interpretations of pathogenicity 93255 rs118126378 19:39070762-39070762 19:38580122-38580122
37 RYR1 NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg)SNV Conflicting interpretations of pathogenicity 93269 rs137933390 19:38965975-38965975 19:38475335-38475335
38 RYR1 NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)SNV Conflicting interpretations of pathogenicity 93276 rs143418190 19:38979906-38979906 19:38489266-38489266
39 RYR1 NM_000540.2(RYR1):c.6645C>T (p.Leu2215=)SNV Conflicting interpretations of pathogenicity 93283 rs146617004 19:38986951-38986951 19:38496311-38496311
40 RYR1 NM_000540.2(RYR1):c.2091C>T (p.Ala697=)SNV Conflicting interpretations of pathogenicity 159839 rs138704724 19:38948856-38948856 19:38458216-38458216
41 RYR1 NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)SNV Conflicting interpretations of pathogenicity 159851 rs146429605 19:38973933-38973933 19:38483293-38483293
42 RYR1 NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr)SNV Conflicting interpretations of pathogenicity 159865 rs375626634 19:39008071-39008071 19:38517431-38517431
43 RYR1 NM_000540.2(RYR1):c.2319C>T (p.Asp773=)SNV Conflicting interpretations of pathogenicity 194923 rs374924686 19:38949937-38949937 19:38459297-38459297
44 RYR1 NM_000540.2(RYR1):c.12283-7C>TSNV Conflicting interpretations of pathogenicity 167624 rs143861818 19:39051746-39051746 19:38561106-38561106
45 RYR1 NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr)SNV Conflicting interpretations of pathogenicity 161363 rs148623597 19:38955289-38955289 19:38464649-38464649
46 RYR1 NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)SNV Conflicting interpretations of pathogenicity 161364 rs146504767 19:38976331-38976331 19:38485691-38485691
47 RYR1 NM_000540.2(RYR1):c.4878C>T (p.Ala1626=)SNV Conflicting interpretations of pathogenicity 167617 rs369466056 19:38974100-38974100 19:38483460-38483460
48 RYR1 NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met)SNV Conflicting interpretations of pathogenicity 159834 rs587784372 19:39055855-39055855 19:38565215-38565215
49 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter)SNV Conflicting interpretations of pathogenicity 161361 rs377178986 19:39034060-39034060 19:38543420-38543420
50 RYR1 NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly)SNV Conflicting interpretations of pathogenicity 161366 rs139647387 19:39057618-39057618 19:38566978-38566978

UniProtKB/Swiss-Prot genetic disease variations for Minicore Myopathy with External Ophthalmoplegia:

73
# Symbol AA change Variation ID SNP ID
1 RYR1 p.Arg109Trp VAR_032910 rs118192173
2 RYR1 p.Met2423Lys VAR_032915 rs118192174
3 RYR1 p.Met402Thr VAR_063846 rs118192117
4 RYR1 p.His2035Leu VAR_063847 rs367543056
5 RYR1 p.Asn3326Lys VAR_063848 rs367543057
6 RYR1 p.Cys3402Gly VAR_063849 rs367543058

Expression for Minicore Myopathy with External Ophthalmoplegia

Search GEO for disease gene expression data for Minicore Myopathy with External Ophthalmoplegia.

Pathways for Minicore Myopathy with External Ophthalmoplegia

GO Terms for Minicore Myopathy with External Ophthalmoplegia

Sources for Minicore Myopathy with External Ophthalmoplegia

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