MM
MCID: MYS006
MIFTS: 33

Miyoshi Myopathy (MM) malady

Muscle category

Summaries for Miyoshi Myopathy

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Miyoshi Myopathy, also known as miyoshi distal myopathy, is related to limb-girdle muscular dystrophy and calpainopathy. An important gene associated with Miyoshi Myopathy is DYSF (dysferlin). The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

Wikipedia:64 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

Aliases & Classifications for Miyoshi Myopathy

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

miyoshi myopathy 43 22 45 61
miyoshi distal myopathy 43 20
muscular dystrophy, distal, late onset, autosomal recessive 43
mm 43


Related Diseases for Miyoshi Myopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Miyoshi Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy31.0CAPN3, DYSF, SGCA
2calpainopathy30.4CAPN3, DYSF, SGCA
3dysferlinopathy30.2DYSF
4distal muscular dystrophy30.2CAPN3, DYSF
5miyoshi muscular dystrophy 210.3
6adenocarcinoma10.2
7astigmatism10.2
8acute myocardial infarction10.2
9miyoshi muscular dystrophy 110.2
10myasthenia, congenital, with tubular aggregates 110.2
11otosclerosis10.1
12intracranial aneurysm10.1
13microphthalmia, isolated 610.1
14small cell carcinoma10.0
15clear cell sarcoma10.0
16trigeminal neuralgia10.0
17basal cell carcinoma10.0
18hyperlipidemia type 310.0
19superficial spreading melanoma10.0
20limb-girdle muscular dystrophy type 2h10.0CAPN3, DYSF
21limb-girdle muscular dystrophy, type 2g10.0DYSF, CAPN3
22limb-girdle muscular dystrophy, type 1a10.0CAPN3, DYSF
23protein s deficiency10.0DYSF, CAPN3
24myopathy congenital10.0CHKB, DYSF
25polymyositis10.0DYSF, CHKB
26muscular dystrophy-dystroglycanopathy , type c, 510.0CAPN3, DYSF, CHKB
27becker muscular dystrophy10.0DYSF, SGCA
28myositis10.0CHKB, DYSF, CAPN3
29limb-girdle muscular dystrophy type 2e10.0CAPN3, DYSF, SGCA
30duchenne muscular dystrophy10.0SGCA, CHKB
31limb-girdle muscular dystrophy type 2f10.0DYSF, SGCA, CAPN3
32neuropathy10.0CAPN3, DYSF, SGCA
33dilated cardiomyopathy10.0SGCA, CHKB
34noonan syndrome10.0CHKB, DYSF, SGCA
35neuromuscular disease10.0CHKB, DCTN1, DYSF, CAPN3
36myopathy10.0CHKB, SGCA, DYSF, CAPN3
37limb-girdle muscular dystrophy, type 2b10.0DYSF, CAPN3, SGCA, MYOF
38amyotrophic lateral sclerosis10.0CAPN3, DCTN1, CHKB
39muscular dystrophy10.0DYSF, CAPN3, MYOF, SGCA, CHKB
40neuroendocrine carcinoma9.9
41clear cell acanthoma9.9
42exfoliation syndrome9.9
43gastric dilatation9.9
44superficial basal cell carcinoma9.9
45macroglobulinemia9.9
46retinitis pigmentosa9.9
47nephrolithiasis9.9
48western equine encephalitis9.9
49alpha thalassemia9.9
50barrett's adenocarcinoma9.9

Graphical network of the top 20 diseases related to Miyoshi Myopathy:



Diseases related to miyoshi myopathy

Clinical Features for Miyoshi Myopathy

Drugs & Therapeutics for Miyoshi Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Miyoshi Myopathy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Miyoshi Myopathy:

id Genetic test Affiliating Genes
1 Miyoshi Distal Myopathy20
2 Miyoshi Myopathy22

Anatomical Context for Miyoshi Myopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Miyoshi Myopathy:

33
Skeletal muscle

Animal Models for Miyoshi Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Miyoshi Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9SGCA, MYOF, CHKB, DYSF, CAPN3

Publications for Miyoshi Myopathy

Sources:
51PubMed
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Articles related to Miyoshi Myopathy:

(show all 36)
idTitleAuthorsYear
1
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. (23519732)
2013
2
Correction: Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro. (24376487)
2013
3
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. (23626698)
2013
4
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. (23050857)
2012
5
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. (22336395)
2012
6
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. (20497525)
2010
7
Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. (19048948)
2008
8
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. (17785089)
2007
9
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. (17868276)
2007
10
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. (17132147)
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
Novel dysferlin mutations and characteristic muscle atrophy in late- onset Miyoshi myopathy. (15116377)
2004
16
Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. (15079794)
2004
17
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. (15515206)
2004
18
Miyoshi myopathy--an unusual cause of calf pain and tightness. (14712166)
2004
19
Phenotypic features and genetic findings in 2 Chinese families with Miyoshi distal myopathy. (15477515)
2004
20
Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. (15469449)
2004
21
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. (12796534)
2003
22
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. (12410383)
2002
23
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. (11782994)
2002
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
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. (11231027)
2001
27
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
28
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. (10496277)
1999
29
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. (10545047)
1999
30
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (10196377)
1999
31
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
32
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. (10737122)
1998
33
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. (9731526)
1998
34
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. (9673986)
1998
35
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
36
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. (7723968)
1995

Genetic Variations for Miyoshi Myopathy

Expression for genes affiliated with Miyoshi Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Miyoshi Myopathy

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Pathways for genes affiliated with Miyoshi Myopathy

Compounds for genes affiliated with Miyoshi Myopathy

Sources:
45Novoseek
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Compounds related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine458.4SGCA, CHKB, DYSF, CAPN3

GO Terms for genes affiliated with Miyoshi Myopathy

Sources:
16Gene Ontology
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Cellular components related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicle membraneGO:0306599.6MYOF, DYSF
2T-tubuleGO:0303159.4DYSF, CAPN3

Biological processes related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:0017789.5MYOF, DYSF
2muscle contractionGO:0069369.1SGCA, MYOF
3muscle organ developmentGO:0075178.9SGCA, CAPN3

Products for genes affiliated with Miyoshi Myopathy

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Sources for Miyoshi Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet