MCID: MYS033
MIFTS: 42

Miyoshi Muscular Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 51 69 26 12
Miyoshi Myopathy 47 24 25 53 69 26 49 67
Miyoshi Distal Myopathy 47 24 25
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 47
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 69
 
Distal Muscular Dystrophy, Miyoshi Type 25
Miyoshi Muscular Dystrophy 25
Mmd1 69
Mmd 25
Mm 47

Characteristics:

Orphanet epidemiological data:

53
miyoshi myopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult

HPO:

63
miyoshi muscular dystrophy 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM51 254130
Orphanet53 ORPHA45448
UMLS via Orphanet68 C1850808
ICD10 via Orphanet30 G71.0
MESH via Orphanet39 C537480
MedGen36 C1850808
MeSH38 D049310

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:51 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood... (254130) more...

MalaCards based summary: Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to cataract and miyoshi muscular dystrophy 3, and has symptoms including distal muscle weakness, elevated serum creatine phosphokinase and difficulty climbing stairs. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

Genetics Home Reference:25 Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.

NIH Rare Diseases:47 Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength. It is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner. Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. Last updated: 4/5/2011

UniProtKB/Swiss-Prot:69 Miyoshi muscular dystrophy 1: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.

Related Diseases for Miyoshi Muscular Dystrophy 1

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Diseases in the Miyoshi Muscular Dystrophy 1 family:

Miyoshi Muscular Dystrophy 2 Miyoshi Muscular Dystrophy 3

Diseases related to Miyoshi Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1cataract28.8CAPN3, DYSF
2miyoshi muscular dystrophy 312.4
3miyoshi muscular dystrophy 212.1
4multiple myeloma11.2
5dysferlinopathy11.1
6distal muscular dystrophy11.1
7minicore myopathy with external ophthalmoplegia11.0
8multiminicore disease10.9
9microphthalmia, isolated 610.9
10stroke, ischemic10.8
11medial medullary syndrome10.8
12muscular dystrophy, rigid spine, 110.8
13multiple mitochondrial dysfunctions syndrome 110.8
14multiple mitochondrial dysfunctions syndrome10.8
15mitral valve prolapse, myxomatous 210.8
16microcoria, congenital10.8
17megalocornea 1, x-linked10.8
18choroid disease10.8
19purpura10.8
20hyperlipidemia type 310.8
21methylmalonic aciduria and homocystinuria, cblc type10.7
22maple syrup urine disease, type ii10.7
23transcobalamin ii deficiency10.7
24histidinemia10.7
25female stress incontinence10.7
26osmotic diarrhea10.7
27phaeohyphomycosis10.7
28hemopneumothorax10.7
29skull base meningioma10.7
30childhood kidney cell carcinoma10.7
31intraocular retinoblastoma10.7
32sleep disorder10.7
33inherited metabolic disorder10.7
34amino acid metabolic disorder10.7
35histidine metabolism disease10.7
36cataract 1, multiple types10.6
37cataract 2, multiple types10.6
38cataract, juvenile, with microcornea and glucosuria10.6
39glaucoma 1, open angle, p10.6
40cataract 21, multiple types10.6
41microcornea, myopic chorioretinal atrophy, and telecanthus10.6
42nanophthalmos 410.6
43cataract 9, multiple types10.6
44cataract 40, x-linked10.6
45chiari malformation type i10.6
46megalocornea10.6
47tungiasis10.6
48clear cell acanthoma10.6
49syringoma10.6
50cystic kidney disease10.6

Graphical network of the top 20 diseases related to Miyoshi Muscular Dystrophy 1:



Diseases related to miyoshi muscular dystrophy 1

Symptoms for Miyoshi Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

254130

Clinical features from OMIM:

254130

Human phenotypes related to Miyoshi Muscular Dystrophy 1:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 distal muscle weakness63 HP:0002460
2 elevated serum creatine phosphokinase63 HP:0003236
3 difficulty climbing stairs63 HP:0003551
4 muscular dystrophy63 HP:0003560
5 distal amyotrophy63 HP:0003693
6 deposits immunoreactive to beta-amyloid protein63 HP:0003791
7 lower limb muscle weakness63 HP:0007340
8 decreased achilles reflex63 HP:0009072
9 muscle fibrillation63 HP:0010546
10 decreased/absent ankle reflexes63 HP:0200101

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


grip strength decreased, weakness of lower limb

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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Drugs for Miyoshi Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 2, Phase 312770
2DeflazacortPhase 2, Phase 31314484-47-0
3Anti-Inflammatory AgentsPhase 2, Phase 310355
4VaccinesPhase 16428

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
3Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
4Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular DisordersRecruitingNCT01459302
5Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1

Genetic Tests for Miyoshi Muscular Dystrophy 1

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Genetic tests related to Miyoshi Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 126
2 Miyoshi Myopathy26
3 Miyoshi Distal Myopathy24

Anatomical Context for Miyoshi Muscular Dystrophy 1

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

35
Skeletal muscle

Animal Models for Miyoshi Muscular Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CAPN3, CHKB, DYSF, MYOF

Publications for Miyoshi Muscular Dystrophy 1

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Variations for Miyoshi Muscular Dystrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Miyoshi Muscular Dystrophy 1:

69 (show all 32)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308rs121908956
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.His1857ArgVAR_012310rs199601326
4DYSFp.Arg2042CysVAR_012311rs121908955
5DYSFp.Ala170GluVAR_024853rs34999029
6DYSFp.Gly299GluVAR_024857
7DYSFp.Cys456TrpVAR_024858
8DYSFp.Arg555TrpVAR_024859rs377735262
9DYSFp.Arg959TrpVAR_024860rs202218890
10DYSFp.Arg1046HisVAR_024863rs28939700
11DYSFp.Glu1335LysVAR_024868rs758993965
12DYSFp.Arg1693GlnVAR_024870rs779987458
13DYSFp.Arg2000GlnVAR_024872rs115407852
14DYSFp.Val67AspVAR_057835rs121908957
15DYSFp.Gly299TrpVAR_057841rs121908963
16DYSFp.Glu389GlnVAR_057846
17DYSFp.Gly426ArgVAR_057848
18DYSFp.Gly426ValVAR_057849
19DYSFp.Gly519ArgVAR_057850rs121908962
20DYSFp.Gly618ArgVAR_057851rs201049092
21DYSFp.Trp999CysVAR_057857rs28937581
22DYSFp.Pro1029LeuVAR_057858
23DYSFp.Arg1041CysVAR_057859rs144598063
24DYSFp.Cys1361ArgVAR_057863rs776472879
25DYSFp.Thr1662ArgVAR_057868
26DYSFp.Gly1679GluVAR_057870
27DYSFp.Arg1693TrpVAR_057871rs863225021
28DYSFp.Asp1837AsnVAR_057874rs398123794
29DYSFp.Gly1842AspVAR_057875
30DYSFp.Leu1922ProVAR_057876
31DYSFp.Cys1942GlyVAR_057878
32DYSFp.Pro2068LeuVAR_057881rs149732545

Clinvar genetic disease variations for Miyoshi Muscular Dystrophy 1:

5 (show all 90)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter)SNVPathogenicrs727503911GRCh37Chr 2, 71827961: 71827961
2DYSFNM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter)SNVPathogenicrs727503912GRCh37Chr 2, 71894571: 71894571
3DYSFNM_003494.3(DYSF): c.5525+1G> ASNVPathogenicrs727503915GRCh37Chr 2, 71896338: 71896338
4DYSFNM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys)SNVPathogenicrs786205084GRCh38Chr 2, 71668842: 71668842
5DYSFNM_003494.3(DYSF): c.1931-2deldeletionPathogenicrs774047700GRCh37Chr 2, 71780935: 71780935
6DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)SNVPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
7DYSFNM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys)SNVPathogenicrs756328339GRCh37Chr 2, 71797738: 71797738
8DYSFNM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter)SNVPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
9DYSFNM_003494.3(DYSF): c.3349-2A> GSNVPathogenicrs370874727GRCh37Chr 2, 71816721: 71816721
10DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)SNVPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
11DYSFNM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter)SNVPathogenicrs766016391GRCh37Chr 2, 71871118: 71871118
12DYSFNM_003494.3(DYSF): c.790G> T (p.Glu264Ter)SNVPathogenicrs794727851GRCh37Chr 2, 71742879: 71742879
13DYSFNM_003494.3(DYSF): c.701G> A (p.Gly234Glu)SNVLikely pathogenicrs141497053GRCh37Chr 2, 71742790: 71742790
14DYSFNM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs)duplicationPathogenicrs863225020GRCh37Chr 2, 71709028: 71709028
15DYSFNM_003494.3(DYSF): c.1834C> T (p.Gln612Ter)SNVPathogenicrs746873768GRCh37Chr 2, 71780222: 71780222
16DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
17DYSFNM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp)SNVLikely pathogenic, Pathogenicrs863225021GRCh37Chr 2, 71892311: 71892311
18DYSFNM_003494.3(DYSF): c.2643+1G> ASNV, CompoundHeterozygoteLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
19DYSFNM_003494.3(DYSF): c.331C> T (p.Gln111Ter)SNVPathogenicrs746315830GRCh37Chr 2, 71730438: 71730438
20DYSFNM_003494.3(DYSF): c.1129C> T (p.Arg377Ter)SNVPathogenicrs758180890GRCh38Chr 2, 71526295: 71526295
21DYSFNM_003494.3(DYSF): c.3478C> T (p.Gln1160Ter)SNVPathogenicrs886042091GRCh37Chr 2, 71817376: 71817376
22DYSFNM_001130987.1(DYSF): c.1372G> A (p.Gly458Arg)SNVPathogenicrs886042093GRCh37Chr 2, 71755523: 71755523
23DYSFNM_003494.3(DYSF): c.4090C> T (p.Gln1364Ter)SNVPathogenicrs886042095GRCh37Chr 2, 71838679: 71838679
24DYSFNM_001130987.1(DYSF): c.5003+1249G> TSNVPathogenicrs886042110GRCh37Chr 2, 71889030: 71889030
25DYSFNM_003494.3(DYSF): c.5982_5989dupGAGTGAGC (p.His1997Argfs)duplicationPathogenicrs886042318GRCh37Chr 2, 71908166: 71908173
26DYSFNM_003494.3(DYSF): c.339delA (p.Ala115Profs)deletionPathogenicrs886042379GRCh37Chr 2, 71730446: 71730446
27DYSFNM_001130987.1(DYSF): c.1264G> A (p.Asp422Asn)SNVLikely pathogenicrs886042389GRCh37Chr 2, 71753464: 71753464
28DYSFNM_001130987.1(DYSF): c.2409+1G> ASNVPathogenicrs151317754GRCh37Chr 2, 71789075: 71789075
29DYSFNM_003494.3(DYSF): c.3504dupC (p.Lys1169Glnfs)duplicationPathogenicrs886042504GRCh37Chr 2, 71817402: 71817402
30DYSFNM_001130987.1(DYSF): c.4614delT (p.Phe1538Leufs)deletionPathogenicrs886042578GRCh38Chr 2, 71644051: 71644051
31DYSFNM_001130987.1(DYSF): c.951+2T> GSNVPathogenicrs886042590GRCh37Chr 2, 71743374: 71743374
32DYSFNM_003494.3(DYSF): c.937+2T> CSNVPathogenicrs886042617GRCh37Chr 2, 71747340: 71747340
33DYSFNM_001130987.1(DYSF): c.3483delC (p.Cys1162Alafs)deletionPathogenicrs886042632GRCh37Chr 2, 71816803: 71816803
34DYSFNM_003494.3(DYSF): c.1708C> T (p.Gln570Ter)SNVPathogenicrs886042633GRCh37Chr 2, 71778806: 71778806
35DYSFNM_001130987.1(DYSF): c.4576G> T (p.Glu1526Ter)SNVPathogenicrs886042635GRCh37Chr 2, 71871143: 71871143
36DYSFNM_001130987.1(DYSF): c.5785-7G> ASNVPathogenicrs753861836GRCh37Chr 2, 71901320: 71901320
37DYSFNM_003494.3(DYSF): c.5947-1G> CSNVPathogenicrs886042636GRCh37Chr 2, 71908130: 71908130
38DYSFNM_001130987.1(DYSF): c.682dupC (p.His228Profs)duplicationPathogenicrs886042680GRCh37Chr 2, 71740974: 71740974
39DYSFNM_003494.3(DYSF): c.4299C> G (p.Tyr1433Ter)SNVPathogenicrs886043145GRCh37Chr 2, 71839902: 71839902
40DYSFNM_001130987.1(DYSF): c.5004-1G> ASNVPathogenicrs886043170GRCh37Chr 2, 71891397: 71891397
41DYSFNM_001130987.1(DYSF): c.5419C> T (p.Arg1807Trp)SNVLikely pathogenicrs746243052GRCh37Chr 2, 71894607: 71894607
42DYSFNM_001130987.1(DYSF): c.1450-3_1450-2delCAdeletionPathogenicrs886043328GRCh37Chr 2, 71762395: 71762396
43DYSFNM_001130987.1(DYSF): c.2865-2A> CSNVPathogenicrs886043964GRCh37Chr 2, 71796948: 71796948
44DYSFNM_001130987.1(DYSF): c.1576G> T (p.Val526Leu)SNVPathogenicrs886044537GRCh37Chr 2, 71766369: 71766369
45DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)SNVPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
46DYSFNM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys)SNVPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
47DYSFNM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs)indelPathogenicrs786200896GRCh37Chr 2, 71887767: 71887771
48DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)SNVPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
49DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
50DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)SNVPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
51DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)SNVPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
52DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)SNVPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
53DYSFNM_003494.3(DYSF): c.1555G> A (p.Gly519Arg)SNVPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
54DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)SNVPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
55DYSFNM_003494.3(DYSF): c.2779delG (p.Ala927Leufs)deletionPathogenicrs727503909GRCh37Chr 2, 71795437: 71795437
56DYSFNM_003494.3(DYSF): c.1053+1G> ASNVPathogenicrs398123763GRCh37Chr 2, 71748035: 71748035
57DYSFNM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs)deletionPathogenicrs398123764GRCh37Chr 2, 71708031: 71708032
58DYSFNM_003494.3(DYSF): c.1284+2T> CSNVPathogenicrs398123765GRCh37Chr 2, 71755533: 71755533
59DYSFNM_003494.3(DYSF): c.1368C> A (p.Cys456Ter)SNVPathogenicrs202044973GRCh37Chr 2, 71762412: 71762412
60DYSFNM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs)duplicationPathogenicrs398123767GRCh37Chr 2, 71762436: 71762436
61DYSFNM_003494.3(DYSF): c.1398-1G> ASNVPathogenicrs398123768GRCh37Chr 2, 71766286: 71766286
62DYSFNM_003494.3(DYSF): c.1398-2A> GSNVPathogenicrs398123769GRCh37Chr 2, 71766285: 71766285
63DYSFNM_003494.3(DYSF): c.1481-1G> ASNVPathogenicrs398123770GRCh37Chr 2, 71776479: 71776479
64DYSFNM_003494.3(DYSF): c.1638+2T> ASNVPathogenicrs398123771GRCh37Chr 2, 71778288: 71778288
65DYSFNM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs)deletionPathogenicrs398123772GRCh37Chr 2, 71778740: 71778740
66DYSFNM_003494.3(DYSF): c.1663C> T (p.Arg555Trp)SNVPathogenicrs377735262GRCh37Chr 2, 71778761: 71778761
67DYSFNM_003494.3(DYSF): c.2311C> T (p.Gln771Ter)SNVPathogenicrs398123773GRCh37Chr 2, 71789030: 71789030
68DYSFNM_003494.3(DYSF): c.2869C> T (p.Gln957Ter)SNVPathogenicrs398123776GRCh37Chr 2, 71797008: 71797008
69DYSFNM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs)deletionPathogenicrs398123777GRCh37Chr 2, 71797009: 71797013
70DYSFNM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs)deletionPathogenicrs398123780GRCh37Chr 2, 71801480: 71801481
71DYSFNM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter)indelPathogenicrs398123781GRCh37Chr 2, 71817342: 71817343
72DYSFNM_003494.3(DYSF): c.353delT (p.Val118Alafs)deletionPathogenicrs398123782GRCh37Chr 2, 71738947: 71738947
73DYSFNM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs)deletionPathogenicrs398123783GRCh37Chr 2, 71825814: 71825814
74DYSFNM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs)deletionPathogenicrs398123784GRCh37Chr 2, 71738987: 71738988
75DYSFNM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs)duplicationPathogenicrs398123786GRCh37Chr 2, 71839803: 71839803
76DYSFNM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp)SNVLikely pathogenic, Pathogenicrs398123787GRCh37Chr 2, 71839856: 71839856
77DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)SNVPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125
78DYSFNM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter)SNVPathogenicrs398123790GRCh37Chr 2, 71891405: 71891405
79DYSFNM_003494.3(DYSF): c.5341-2A> CSNVPathogenicrs398123792GRCh37Chr 2, 71895882: 71895882
80DYSFNM_003494.3(DYSF): c.5429+1G> TSNVPathogenicrs398123793GRCh37Chr 2, 71895973: 71895973
81DYSFNM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter)SNVPathogenicrs201592500GRCh37Chr 2, 71896309: 71896309
82DYSFNM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn)SNVPathogenicrs398123794GRCh37Chr 2, 71896321: 71896321
83DYSFNM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter)SNVPathogenicrs398123795GRCh37Chr 2, 71896853: 71896853
84DYSFNM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs)deletionPathogenicrs398123796GRCh37Chr 2, 71901357: 71901358
85DYSFNM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs)deletionPathogenicrs398123797GRCh37Chr 2, 71906255: 71906258
86DYSFNM_003494.3(DYSF): c.5946+1G> ASNVPathogenicrs398123798GRCh37Chr 2, 71906366: 71906366
87DYSFNM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs)duplicationPathogenicrs398123799GRCh37Chr 2, 71908163: 71908163
88DYSFNM_003494.3(DYSF): c.610C> T (p.Arg204Ter)SNVPathogenicrs373585652GRCh37Chr 2, 71740998: 71740998
89DYSFNM_003494.3(DYSF): c.663+1G> CSNVPathogenicrs398123800GRCh37Chr 2, 71741052: 71741052
90DYSFNM_003494.3(DYSF): c.937+1G> ASNVPathogenicrs201869739GRCh37Chr 2, 71747339: 71747339

Expression for genes affiliated with Miyoshi Muscular Dystrophy 1

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Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 1.

Pathways for genes affiliated with Miyoshi Muscular Dystrophy 1

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GO Terms for genes affiliated with Miyoshi Muscular Dystrophy 1

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Cellular components related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicle membraneGO:00306599.7DYSF, MYOF
2T-tubuleGO:00303159.7CAPN3, DYSF
3cytoplasmic vesicleGO:00314109.5DYSF, MYOF

Biological processes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:00017789.8DYSF, MYOF
2muscle contractionGO:00069369.5DYSF, MYOF

Molecular functions related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.5DYSF, MYOF

Sources for Miyoshi Muscular Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet