MMD1
MCID: MYS033
MIFTS: 42

Miyoshi Muscular Dystrophy 1 (MMD1) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 52 70 27 12
Miyoshi Myopathy 48 24 25 54 70 27 50 68
Miyoshi Distal Myopathy 48 24 25
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 48
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 70
 
Distal Muscular Dystrophy, Miyoshi Type 25
Miyoshi Muscular Dystrophy 25
Mmd1 70
Mmd 25
Mm 48

Characteristics:

Orphanet epidemiological data:

54
miyoshi myopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult

HPO:

64
miyoshi muscular dystrophy 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 254130
Orphanet54 ORPHA45448
UMLS via Orphanet69 C1850808
ICD10 via Orphanet31 G71.0
MESH via Orphanet40 C537480
MedGen37 C1850808
MeSH39 D049310

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:52 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 miyoshi muscular dystrophy 3 and miyoshi muscular dystrophy 2, and has symptoms including decreased grip strength, decreased grip strength and lower limb muscle weakness. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, and related mouse phenotypes are Decreased viability and 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:48 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:70 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 166)
idRelated DiseaseScoreTop Affiliating Genes
1miyoshi muscular dystrophy 312.4
2miyoshi muscular dystrophy 212.1
3multiple mitochondrial dysfunctions syndrome11.5
4multiple myeloma11.2
5dysferlinopathy11.1
6distal muscular dystrophy11.1
7minicore myopathy with external ophthalmoplegia11.0
8muscular dystrophy, rigid spine, 110.9
9multiminicore disease10.9
10microphthalmia, isolated 610.9
11methylmalonic aciduria and homocystinuria, cblc type10.8
12maple syrup urine disease, type ii10.8
13transcobalamin ii deficiency10.8
14histidinemia10.8
15female stress incontinence10.8
16osmotic diarrhea10.8
17hemopneumothorax10.8
18skull base meningioma10.8
19childhood kidney cell carcinoma10.8
20intraocular retinoblastoma10.8
21sleep disorder10.8
22inherited metabolic disorder10.8
23amino acid metabolic disorder10.8
24histidine metabolism disease10.8
25medial medullary syndrome10.8
26multiple mitochondrial dysfunctions syndrome 110.8
27mitral valve prolapse, myxomatous 210.8
28microcoria, congenital10.8
29megalocornea 1, x-linked10.8
30choroid disease10.8
31purpura10.8
32tyrosinemia, type ii10.7
33cataract 1, multiple types10.6
34cataract 2, multiple types10.6
35cataract, juvenile, with microcornea and glucosuria10.6
36glaucoma 1, open angle, p10.6
37cataract 21, multiple types10.6
38microcornea, myopic chorioretinal atrophy, and telecanthus10.6
39nanophthalmos 410.6
40cataract 9, multiple types10.6
41cataract 40, x-linked10.6
42chiari malformation type i10.6
43megalocornea10.6
44tungiasis10.6
45clear cell acanthoma10.6
46syringoma10.6
47cystic kidney disease10.6
48lichen nitidus10.6
49miliary tuberculosis10.6
50isolated congenital megalocornea10.6

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



Diseases related to miyoshi muscular dystrophy 1

Symptoms & Phenotypes 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:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 distal muscle weakness64 HP:0002460
2 elevated serum creatine phosphokinase64 HP:0003236
3 difficulty climbing stairs64 HP:0003551
4 muscular dystrophy64 HP:0003560
5 distal amyotrophy64 HP:0003693
6 deposits immunoreactive to beta-amyloid protein64 HP:0003791
7 lower limb muscle weakness64 HP:0007340
8 decreased achilles reflex64 HP:0009072
9 muscle fibrillation64 HP:0010546
10 decreased/absent ankle reflexes64 HP:0200101

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


decreased grip strength, lower limb muscle weakness

GenomeRNAi Phenotypes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-110.2CHKB, DYSF

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CAPN3, CHKB, DYSF, MYOF

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
1DeflazacortapprovedPhase 2, Phase 31314484-47-0
2Anti-Inflammatory AgentsPhase 2, Phase 310729
3Immunosuppressive AgentsPhase 2, Phase 313086
4VaccinesPhase 16611

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 127
2 Miyoshi Myopathy27
3 Miyoshi Distal Myopathy24

Anatomical Context for Miyoshi Muscular Dystrophy 1

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

36
Skeletal muscle

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:

70 (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 88)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_ 003494.3(DYSF): c.3832C> T (p.Gln1278Ter)SNVPathogenicrs727503911GRCh38Chr 2, 71600831: 71600831
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.1931-2delAdeletionPathogenicrs774047700GRCh37Chr 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)SNVPathogenicrs766016391GRCh38Chr 2, 71643988: 71643988
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)SNVPathogenic/ Likely pathogenicrs863225021GRCh37Chr 2, 71892311: 71892311
18DYSFNM_ 003494.3(DYSF): c.2643+1G> ASNV, CompoundHeterozygotePathogenic/ Likely 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)SNVPathogenicrs758180890GRCh37Chr 2, 71753425: 71753425
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_ 003494.3(DYSF): c.5668-7G> 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.2997G> T (p.Trp999Cys)SNVPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
50DYSFNM_ 001130978.1(DYSF): c.3137G> A (p.Arg1046His)SNVPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
51DYSFNM_ 001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)SNVPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
52DYSFNM_ 001130978.1(DYSF): c.895G> T (p.Gly299Trp)SNVPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
53DYSFNM_ 003494.3(DYSF): c.2779delG (p.Ala927Leufs)deletionPathogenicrs727503909GRCh37Chr 2, 71795437: 71795437
54DYSFNM_ 003494.3(DYSF): c.1053+1G> ASNVPathogenicrs398123763GRCh37Chr 2, 71748035: 71748035
55DYSFNM_ 003494.3(DYSF): c.107_ 108delAA (p.Lys36Serfs)deletionPathogenicrs398123764GRCh37Chr 2, 71708031: 71708032
56DYSFNM_ 003494.3(DYSF): c.1284+2T> CSNVPathogenicrs398123765GRCh37Chr 2, 71755533: 71755533
57DYSFNM_ 003494.3(DYSF): c.1368C> A (p.Cys456Ter)SNVPathogenicrs202044973GRCh37Chr 2, 71762412: 71762412
58DYSFNM_ 003494.3(DYSF): c.1392dupA (p.Asp465Argfs)duplicationPathogenicrs398123767GRCh37Chr 2, 71762436: 71762436
59DYSFNM_ 003494.3(DYSF): c.1398-1G> ASNVPathogenicrs398123768GRCh37Chr 2, 71766286: 71766286
60DYSFNM_ 003494.3(DYSF): c.1398-2A> GSNVPathogenicrs398123769GRCh37Chr 2, 71766285: 71766285
61DYSFNM_ 003494.3(DYSF): c.1481-1G> ASNVPathogenicrs398123770GRCh37Chr 2, 71776479: 71776479
62DYSFNM_ 003494.3(DYSF): c.1638+2T> ASNVPathogenicrs398123771GRCh37Chr 2, 71778288: 71778288
63DYSFNM_ 003494.3(DYSF): c.1642delG (p.Glu548Lysfs)deletionPathogenicrs398123772GRCh37Chr 2, 71778740: 71778740
64DYSFNM_ 003494.3(DYSF): c.1663C> T (p.Arg555Trp)SNVPathogenicrs377735262GRCh37Chr 2, 71778761: 71778761
65DYSFNM_ 003494.3(DYSF): c.2311C> T (p.Gln771Ter)SNVPathogenicrs398123773GRCh37Chr 2, 71789030: 71789030
66DYSFNM_ 003494.3(DYSF): c.2869C> T (p.Gln957Ter)SNVPathogenicrs398123776GRCh37Chr 2, 71797008: 71797008
67DYSFNM_ 003494.3(DYSF): c.2870_ 2874delAGACC (p.Gln957Profs)deletionPathogenicrs398123777GRCh37Chr 2, 71797009: 71797013
68DYSFNM_ 003494.3(DYSF): c.3327_ 3328delGT (p.Phe1110Cysfs)deletionPathogenicrs398123780GRCh37Chr 2, 71801480: 71801481
69DYSFNM_ 003494.3(DYSF): c.3444_ 3445delTGinsAA (p.Tyr1148Ter)indelPathogenicrs398123781GRCh37Chr 2, 71817342: 71817343
70DYSFNM_ 003494.3(DYSF): c.353delT (p.Val118Alafs)deletionPathogenicrs398123782GRCh37Chr 2, 71738947: 71738947
71DYSFNM_ 003494.3(DYSF): c.3641delC (p.Pro1214Argfs)deletionPathogenicrs398123783GRCh37Chr 2, 71825814: 71825814
72DYSFNM_ 003494.3(DYSF): c.393_ 394delCC (p.Leu132Valfs)deletionPathogenicrs398123784GRCh37Chr 2, 71738987: 71738988
73DYSFNM_ 003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs)duplicationPathogenicrs398123786GRCh37Chr 2, 71839803: 71839803
74DYSFNM_ 003494.3(DYSF): c.4253G> A (p.Gly1418Asp)SNVPathogenic/ Likely pathogenicrs398123787GRCh37Chr 2, 71839856: 71839856
75DYSFNM_ 003494.3(DYSF): c.4756C> T (p.Arg1586Ter)SNVPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125
76DYSFNM_ 003494.3(DYSF): c.4894G> T (p.Glu1632Ter)SNVPathogenicrs398123790GRCh37Chr 2, 71891405: 71891405
77DYSFNM_ 003494.3(DYSF): c.5341-2A> CSNVPathogenicrs398123792GRCh37Chr 2, 71895882: 71895882
78DYSFNM_ 003494.3(DYSF): c.5429+1G> TSNVPathogenicrs398123793GRCh37Chr 2, 71895973: 71895973
79DYSFNM_ 003494.3(DYSF): c.5497G> T (p.Glu1833Ter)SNVPathogenicrs201592500GRCh37Chr 2, 71896309: 71896309
80DYSFNM_ 003494.3(DYSF): c.5509G> A (p.Asp1837Asn)SNVPathogenicrs398123794GRCh37Chr 2, 71896321: 71896321
81DYSFNM_ 003494.3(DYSF): c.5644C> T (p.Gln1882Ter)SNVPathogenicrs398123795GRCh37Chr 2, 71896853: 71896853
82DYSFNM_ 003494.3(DYSF): c.5698_ 5699delAG (p.Ser1900Glnfs)deletionPathogenicrs398123796GRCh37Chr 2, 71901357: 71901358
83DYSFNM_ 003494.3(DYSF): c.5836_ 5839delCAGC (p.Gln1946Trpfs)deletionPathogenicrs398123797GRCh37Chr 2, 71906255: 71906258
84DYSFNM_ 003494.3(DYSF): c.5946+1G> ASNVPathogenicrs398123798GRCh37Chr 2, 71906366: 71906366
85DYSFNM_ 003494.3(DYSF): c.5979dupA (p.Glu1994Argfs)duplicationPathogenicrs398123799GRCh37Chr 2, 71908163: 71908163
86DYSFNM_ 003494.3(DYSF): c.610C> T (p.Arg204Ter)SNVPathogenicrs373585652GRCh37Chr 2, 71740998: 71740998
87DYSFNM_ 003494.3(DYSF): c.663+1G> CSNVPathogenicrs398123800GRCh37Chr 2, 71741052: 71741052
88DYSFNM_ 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:003065910.1DYSF, MYOF
2nuclear envelopeGO:00056359.8DCTN1, MYOF
3T-tubuleGO:00303159.2CAPN3, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.7DYSF, MYOF
2plasma membrane repairGO:00017789.5DYSF, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet