MCID: MYS033
MIFTS: 48

Miyoshi Muscular Dystrophy 1

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 53 71 28 13
Miyoshi Myopathy 53 49 24 55 71 36 28 51 69
Miyoshi Distal Myopathy 49 24
Mmd1 53 71
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive 53
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 49
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 71
Distal Muscular Dystrophy, Miyoshi Type 24
Miyoshi Muscular Dystrophy 24
Mmd 24
Mm 49

Characteristics:

Orphanet epidemiological data:

55
miyoshi myopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset age 15-25 years
allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, )


HPO:

31
miyoshi muscular dystrophy 1:
Onset and clinical course adult onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 254130
Orphanet 55 ORPHA45448
MESH via Orphanet 42 C537480
UMLS via Orphanet 70 C1850808
ICD10 via Orphanet 33 G71.0
MedGen 39 C1850808
MeSH 41 D049310
KEGG 36 H01965
UMLS 69 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

NIH Rare Diseases : 49 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

MalaCards based summary : Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to dysferlinopathy and myopathy, and has symptoms including muscle fibrillation, lower limb muscle weakness and elevated serum creatine phosphokinase. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). The drugs Deflazacort and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

OMIM : 53 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). (254130)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

Related Diseases for Miyoshi Muscular Dystrophy 1

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 177)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 31.4 CAPN3 DYSF MYOF
2 myopathy 29.8 CAPN3 CHKB DYSF
3 limb-girdle muscular dystrophy 29.8 CAPN3 DYSF
4 muscular dystrophy, limb-girdle, type 2b 29.6 CAPN3 DYSF MYOF
5 autosomal recessive limb-girdle muscular dystrophy type 2b 29.4 CAPN3 DYSF MYOF
6 multiple mitochondrial dysfunctions syndrome 11.6
7 myeloma, multiple 11.3
8 miyoshi muscular dystrophy 3 11.2
9 minicore myopathy with external ophthalmoplegia 11.1
10 miyoshi muscular dystrophy 2 11.1
11 rigid spine muscular dystrophy 1 11.1
12 multiple mitochondrial dysfunctions syndrome 1 11.1
13 multiminicore disease 11.1
14 mitral valve prolapse 1 11.0
15 mesomelia-synostoses syndrome 11.0
16 microphthalmia, isolated 6 11.0
17 medial medullary syndrome 10.9
18 microcoria, congenital 10.9
19 mitral valve prolapse 2 10.9
20 sessile serrated polyposis cancer syndrome 10.9
21 choroid disease 10.9
22 x-linked lissencephaly with abnormal genitalia 10.9
23 apnea, obstructive sleep 10.8
24 histidinemia 10.8
25 moyamoya disease 1 10.8
26 holocarboxylase synthetase deficiency 10.8
27 transcobalamin ii deficiency 10.8
28 methylmalonic aciduria and homocystinuria, cblc type 10.8
29 female stress incontinence 10.8
30 osmotic diarrhea 10.8
31 hemopneumothorax 10.8
32 childhood kidney cell carcinoma 10.8
33 intraocular retinoblastoma 10.8
34 sleep disorder 10.8
35 inherited metabolic disorder 10.8
36 amino acid metabolic disorder 10.8
37 histidine metabolism disease 10.8
38 cataract 1, multiple types 10.7
39 chiari malformation type i 10.7
40 epithelial recurrent erosion dystrophy 10.7
41 papillomatosis, confluent and reticulated 10.7
42 glaucoma 1, open angle, p 10.7
43 hyperparathyroidism, neonatal severe 10.7
44 cataract 40 10.7
45 cataract 9, multiple types 10.7
46 cataract 2, multiple types 10.7
47 cataract 21, multiple types 10.7
48 cataract 47 10.7
49 early repolarization associated with ventricular fibrillation 10.7
50 microcornea, myopic chorioretinal atrophy, and telecanthus 10.7

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

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
decreased grip strength
difficulty climbing stairs
decreased or absent ankle reflexes
muscle biopsy shows dystrophic changes
amyloid deposition in muscle fibers occurs rarely
more
Laboratory Abnormalities:
increased creatine kinase


Clinical features from OMIM:

254130

Human phenotypes related to Miyoshi Muscular Dystrophy 1:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle fibrillation 31 HP:0010546
2 lower limb muscle weakness 31 HP:0007340
3 elevated serum creatine phosphokinase 31 HP:0003236
4 muscular dystrophy 31 HP:0003560
5 distal muscle weakness 31 HP:0002460
6 deposits immunoreactive to beta-amyloid protein 31 occasional (7.5%) HP:0003791
7 difficulty climbing stairs 31 HP:0003551
8 distal amyotrophy 31 HP:0003693
9 decreased achilles reflex 31 HP:0009072
10 decreased/absent ankle reflexes 31 HP:0200101

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


decreased grip strength

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.17 CHKB
2 Decreased viability GR00221-A-2 9.17 CHKB
3 Decreased viability GR00221-A-3 9.17 CHKB
4 Decreased viability GR00221-A-4 9.17 CHKB DYSF
5 Decreased viability GR00301-A 9.17 CHKB DYSF

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAPN3 CHKB DYSF MYOF

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Anti-Inflammatory Agents Phase 2, Phase 3
3 Immunosuppressive Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
3 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
4 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1

Genetic Tests for Miyoshi Muscular Dystrophy 1

Genetic tests related to Miyoshi Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 1 28 DYSF
2 Miyoshi Myopathy 28

Anatomical Context for Miyoshi Muscular Dystrophy 1

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

38
Skeletal Muscle

Publications for Miyoshi Muscular Dystrophy 1

Articles related to Miyoshi Muscular Dystrophy 1:

(show all 35)
# Title Authors Year
1
A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy. ( 29403136 )
2018
2
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? ( 28053302 )
2017
3
Achilles tendon lengthening for equinus foot with Miyoshi myopathy: a case report. ( 24618243 )
2014
4
Correction: Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro. ( 24376487 )
2013
5
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. ( 23626698 )
2013
6
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. ( 23050857 )
2012
7
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. ( 20497525 )
2010
8
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. ( 17868276 )
2007
9
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. ( 17132147 )
2007
10
[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. ( 17785089 )
2007
11
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. ( 16023782 )
2006
12
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. ( 16891820 )
2006
13
Calf-head sign in Miyoshi myopathy. ( 17030657 )
2006
14
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. ( 16010686 )
2005
15
Miyoshi myopathy--an unusual cause of calf pain and tightness. ( 14712166 )
2004
16
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. ( 15515206 )
2004
17
[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. ( 15079794 )
2004
18
Novel dysferlin mutations and characteristic muscle atrophy in late- onset Miyoshi myopathy. ( 15116377 )
2004
19
Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. ( 15469449 )
2004
20
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. ( 12796534 )
2003
21
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. ( 12410383 )
2002
22
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11782994 )
2002
23
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. ( 11231027 )
2001
24
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. ( 11468312 )
2001
25
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11257469 )
2001
26
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
27
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. ( 10496277 )
1999
28
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
29
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. ( 10545047 )
1999
30
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. ( 10737122 )
1998
31
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. ( 9731526 )
1998
32
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. ( 9673986 )
1998
33
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. ( 9570945 )
1998
34
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. ( 8808603 )
1996
35
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. ( 7723968 )
1995

Variations for Miyoshi Muscular Dystrophy 1

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

71 (show all 32)
# Symbol AA change Variation ID SNP ID
1 DYSF p.Pro791Arg VAR_012308 rs121908956
2 DYSF p.Ile1298Val VAR_012309 rs121908954
3 DYSF p.His1857Arg VAR_012310 rs199601326
4 DYSF p.Arg2042Cys VAR_012311 rs121908955
5 DYSF p.Ala170Glu VAR_024853 rs34999029
6 DYSF p.Gly299Glu VAR_024857
7 DYSF p.Cys456Trp VAR_024858
8 DYSF p.Arg555Trp VAR_024859 rs377735262
9 DYSF p.Arg959Trp VAR_024860 rs202218890
10 DYSF p.Arg1046His VAR_024863 rs121908958
11 DYSF p.Glu1335Lys VAR_024868 rs758993965
12 DYSF p.Arg1693Gln VAR_024870 rs779987458
13 DYSF p.Arg2000Gln VAR_024872 rs115407852
14 DYSF p.Val67Asp VAR_057835 rs121908957
15 DYSF p.Gly299Trp VAR_057841 rs121908963
16 DYSF p.Glu389Gln VAR_057846
17 DYSF p.Gly426Arg VAR_057848 rs886042093
18 DYSF p.Gly426Val VAR_057849
19 DYSF p.Gly519Arg VAR_057850 rs121908962
20 DYSF p.Gly618Arg VAR_057851 rs201049092
21 DYSF p.Trp999Cys VAR_057857 rs28937581
22 DYSF p.Pro1029Leu VAR_057858
23 DYSF p.Arg1041Cys VAR_057859 rs144598063
24 DYSF p.Cys1361Arg VAR_057863 rs776472879
25 DYSF p.Thr1662Arg VAR_057868
26 DYSF p.Gly1679Glu VAR_057870
27 DYSF p.Arg1693Trp VAR_057871 rs863225021
28 DYSF p.Asp1837Asn VAR_057874 rs398123794
29 DYSF p.Gly1842Asp VAR_057875
30 DYSF p.Leu1922Pro VAR_057876
31 DYSF p.Cys1942Gly VAR_057878
32 DYSF p.Pro2068Leu VAR_057881 rs149732545

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 1:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
2 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
3 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
4 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
5 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
6 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
7 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
8 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
9 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
10 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh37 Chromosome 2, 71778288: 71778288
11 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh37 Chromosome 2, 71778740: 71778740
12 DYSF NM_003494.3(DYSF): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs377735262 GRCh37 Chromosome 2, 71778761: 71778761
13 DYSF NM_003494.3(DYSF): c.2311C> T (p.Gln771Ter) single nucleotide variant Pathogenic rs398123773 GRCh37 Chromosome 2, 71789030: 71789030
14 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh37 Chromosome 2, 71795213: 71795213
15 DYSF NM_003494.3(DYSF): c.2869C> T (p.Gln957Ter) single nucleotide variant Pathogenic rs398123776 GRCh37 Chromosome 2, 71797008: 71797008
16 DYSF NM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs) deletion Pathogenic rs398123777 GRCh37 Chromosome 2, 71797009: 71797013
17 DYSF NM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs) deletion Pathogenic rs398123780 GRCh37 Chromosome 2, 71801480: 71801481
18 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
19 DYSF NM_003494.3(DYSF): c.353delT (p.Val118Alafs) deletion Pathogenic rs398123782 GRCh37 Chromosome 2, 71738947: 71738947
20 DYSF NM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs) deletion Pathogenic rs398123783 GRCh37 Chromosome 2, 71825814: 71825814
21 DYSF NM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs) deletion Pathogenic rs398123784 GRCh37 Chromosome 2, 71738987: 71738988
22 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
23 DYSF NM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter) single nucleotide variant Pathogenic rs398123789 GRCh37 Chromosome 2, 71886125: 71886125
24 DYSF NM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter) single nucleotide variant Pathogenic rs398123790 GRCh37 Chromosome 2, 71891405: 71891405
25 DYSF NM_003494.3(DYSF): c.5341-2A> C single nucleotide variant Pathogenic rs398123792 GRCh37 Chromosome 2, 71895882: 71895882
26 DYSF NM_003494.3(DYSF): c.5429+1G> T single nucleotide variant Pathogenic rs398123793 GRCh37 Chromosome 2, 71895973: 71895973
27 DYSF NM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter) single nucleotide variant Pathogenic rs201592500 GRCh37 Chromosome 2, 71896309: 71896309
28 DYSF NM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn) single nucleotide variant Pathogenic rs398123794 GRCh37 Chromosome 2, 71896321: 71896321
29 DYSF NM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter) single nucleotide variant Pathogenic rs398123795 GRCh37 Chromosome 2, 71896853: 71896853
30 DYSF NM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs) deletion Pathogenic rs398123796 GRCh37 Chromosome 2, 71901357: 71901358
31 DYSF NM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs) deletion Pathogenic rs398123797 GRCh37 Chromosome 2, 71906255: 71906258
32 DYSF NM_003494.3(DYSF): c.5946+1G> A single nucleotide variant Pathogenic rs398123798 GRCh37 Chromosome 2, 71906366: 71906366
33 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh37 Chromosome 2, 71908163: 71908163
34 DYSF NM_003494.3(DYSF): c.610C> T (p.Arg204Ter) single nucleotide variant Pathogenic rs373585652 GRCh37 Chromosome 2, 71740998: 71740998
35 DYSF NM_003494.3(DYSF): c.663+1G> C single nucleotide variant Pathogenic rs398123800 GRCh37 Chromosome 2, 71741052: 71741052
36 DYSF NM_003494.3(DYSF): c.937+1G> A single nucleotide variant Pathogenic rs201869739 GRCh37 Chromosome 2, 71747339: 71747339
37 DYSF NM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter) single nucleotide variant Pathogenic rs727503912 GRCh38 Chromosome 2, 71667441: 71667441
38 DYSF NM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 GRCh37 Chromosome 2, 71827961: 71827961
39 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh37 Chromosome 2, 71896338: 71896338
40 DYSF NM_003494.3(DYSF): c.1931-2delA deletion Pathogenic rs774047700 GRCh37 Chromosome 2, 71780935: 71780935
41 DYSF NM_003494.3(DYSF): c.1956G> A (p.Trp652Ter) single nucleotide variant Pathogenic rs794727343 GRCh37 Chromosome 2, 71780962: 71780962
42 DYSF NM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys) single nucleotide variant Pathogenic rs756328339 GRCh37 Chromosome 2, 71797738: 71797738
43 DYSF NM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter) single nucleotide variant Pathogenic rs794727534 GRCh37 Chromosome 2, 71801383: 71801383
44 DYSF NM_003494.3(DYSF): c.3349-2A> G single nucleotide variant Pathogenic rs370874727 GRCh37 Chromosome 2, 71816721: 71816721
45 DYSF NM_003494.3(DYSF): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs794727636 GRCh37 Chromosome 2, 71730372: 71730372
46 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic rs766016391 GRCh37 Chromosome 2, 71871118: 71871118
47 DYSF NM_003494.3(DYSF): c.790G> T (p.Glu264Ter) single nucleotide variant Pathogenic rs794727851 GRCh37 Chromosome 2, 71742879: 71742879
48 DYSF NM_003494.3(DYSF): c.701G> A (p.Gly234Glu) single nucleotide variant Likely pathogenic rs141497053 GRCh37 Chromosome 2, 71742790: 71742790
49 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
50 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727

Expression for Miyoshi Muscular Dystrophy 1

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

Pathways for Miyoshi Muscular Dystrophy 1

GO Terms for Miyoshi Muscular Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.16 DCTN1 MYOF
2 cytoplasmic vesicle membrane GO:0030659 8.96 DYSF MYOF
3 T-tubule GO:0030315 8.62 CAPN3 DYSF

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 DYSF MYOF
2 plasma membrane repair GO:0001778 8.62 DYSF MYOF

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 8.62 DYSF MYOF

Sources for Miyoshi Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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