MM
MCID: MYS006
MIFTS: 39

Miyoshi Myopathy (MM) malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Miyoshi Myopathy

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 myopathy and muscular dystrophy. 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.

Genetics Home Reference:22 Miyoshi myopathy is a muscle disorder that primarily affects muscles 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.

Wikipedia:66 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

Aliases & Classifications for Miyoshi Myopathy

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22Genetics Home Reference, 44NIH Rare Diseases, 23GTR, 46Novoseek, 63UMLS, 21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Aliases & Descriptions:

miyoshi myopathy 44 23 22 46 63
miyoshi distal myopathy 44 21 22
muscular dystrophy, distal, late onset, autosomal recessive 44
distal muscular dystrophy, miyoshi type 22
miyoshi muscular dystrophy 22
mmd 22
mm 44


Related Diseases for Miyoshi Myopathy

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18GeneCards, 19GeneDecks
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Diseases related to Miyoshi Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.3DYSF, CAPN3, CHKB, SGCA
2muscular dystrophy31.2MYOF
3limb-girdle muscular dystrophy31.0SGCA, CAPN3, DYSF
4dysferlinopathy30.8DYSF
5distal muscular dystrophy30.5CAPN3, DYSF
6calpainopathy30.4SGCA, DYSF, CAPN3
7limb-girdle muscular dystrophy, type 2b30.4MYOF, CAPN3, DYSF, SGCA
8miyoshi muscular dystrophy 310.6
9multiple myeloma10.6
10myeloma10.6
11miyoshi muscular dystrophy 210.5
12multiminicore disease10.4
13melanoma10.4
14distal anoctaminopathy10.3
15adenocarcinoma10.2
16astigmatism10.2
17myocardial infarction10.2
18sarcoma10.2
19aneurysm10.2
20miyoshi muscular dystrophy 110.2
21myasthenia, congenital, with tubular aggregates 110.2
22minicore myopathy with external ophthalmoplegia10.2
23intracranial aneurysm10.1
24otosclerosis10.1
25acute myocardial infarction10.1
26malignant mesothelioma10.1
27microphthalmia, isolated 610.1
28limb-girdle muscular dystrophy type 2h10.0DYSF, CAPN3
29limb-girdle muscular dystrophy, type 2g10.0DYSF, CAPN3
30limb-girdle muscular dystrophy, type 1a10.0DYSF, CAPN3
31clear cell sarcoma10.0
32cerebritis10.0
33trigeminal neuralgia10.0
34basal cell carcinoma10.0
35exotropia10.0
36leukemia10.0
37monocytic leukemia10.0
38pancreatitis10.0
39prostate adenocarcinoma10.0
40prostatitis10.0
41retinitis10.0
42thyroiditis10.0
43hyperlipidemia type 310.0
44superficial spreading melanoma10.0
45endotheliitis10.0
46becker muscular dystrophy10.0SGCA, DYSF
47protein s deficiency10.0DYSF, CAPN3
48myopathy congenital10.0DYSF, CHKB
49propionic acidemia10.0
50central core myopathy10.0

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



Diseases related to miyoshi myopathy

Symptoms for Miyoshi Myopathy

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Drugs & Therapeutics for Miyoshi Myopathy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Miyoshi Myopathy

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21GeneTests, 23GTR
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Genetic tests related to Miyoshi Myopathy:

id Genetic test Affiliating Genes
1 Miyoshi Distal Myopathy21
2 Miyoshi Myopathy23

Anatomical Context for Miyoshi Myopathy

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34MalaCards
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MalaCards organs/tissues related to Miyoshi Myopathy:

34
Skeletal muscle

Animal Models for Miyoshi Myopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Miyoshi Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9DYSF, CAPN3, CHKB, MYOF, SGCA

Publications for Miyoshi Myopathy

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53PubMed
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Articles related to Miyoshi Myopathy:

(show all 32)
idTitleAuthorsYear
1
Correction: Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro. (24376487)
2013
2
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. (23626698)
2013
3
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. (23050857)
2012
4
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. (20497525)
2010
5
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. (17785089)
2007
6
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. (17868276)
2007
7
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. (17132147)
2007
8
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. (16023782)
2006
9
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. (16891820)
2006
10
Calf-head sign in Miyoshi myopathy. (17030657)
2006
11
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. (16010686)
2005
12
Novel dysferlin mutations and characteristic muscle atrophy in late- onset Miyoshi myopathy. (15116377)
2004
13
Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. (15079794)
2004
14
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. (15515206)
2004
15
Miyoshi myopathy--an unusual cause of calf pain and tightness. (14712166)
2004
16
Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. (15469449)
2004
17
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. (12796534)
2003
18
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. (12410383)
2002
19
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. (11782994)
2002
20
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. (11468312)
2001
21
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy. (11257469)
2001
22
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. (11231027)
2001
23
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
24
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. (10496277)
1999
25
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. (10545047)
1999
26
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (10196377)
1999
27
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
28
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. (10737122)
1998
29
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. (9731526)
1998
30
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. (9673986)
1998
31
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
32
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. (7723968)
1995

Variations for Miyoshi Myopathy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Miyoshi Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)single nucleotide variantPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
2DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
3DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
4DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
5DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
6DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
7DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
8DYSFNM_001130978.1(DYSF): c.1555G> A (p.Gly519Arg)single nucleotide variantPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
9DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158

Expression for genes affiliated with Miyoshi Myopathy

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Miyoshi Myopathy

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46Novoseek
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Compounds related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine468.6DYSF, CAPN3, CHKB, SGCA

GO Terms for genes affiliated with Miyoshi Myopathy

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17Gene Ontology
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Cellular components related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.5DYSF, CAPN3
2cytoplasmic vesicle membraneGO:0306599.4DYSF, MYOF
3sarcolemmaGO:0423839.2DYSF, SGCA

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

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:0017789.3DYSF, MYOF
2muscle contractionGO:0069369.3MYOF, SGCA
3muscle organ developmentGO:0075179.2CAPN3, SGCA

Molecular functions related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.1DYSF, MYOF
2calcium ion bindingGO:0055099.1DYSF, CAPN3, SGCA

Products for genes affiliated with Miyoshi Myopathy

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Sources for Miyoshi Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet