MCID: MYS032
MIFTS: 33

Myosin Storage Myopathy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Myosin Storage Myopathy

MalaCards integrated aliases for Myosin Storage Myopathy:

Name: Myosin Storage Myopathy 53 25 37 29 6
Myopathy, Myosin Storage 13 73
Hyaline Body Myopathy 53 59
Autosomal Dominant Hyaline Body Myopathy 25
Myopathy, Hyaline Body 13

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA53698
ICD10 via Orphanet 34 G71.2
KEGG 37 H00703
UMLS 73 C1842160

Summaries for Myosin Storage Myopathy

NIH Rare Diseases : 53 Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. Myosin storage myopathy is caused by changes (mutations) in the MYH7 gene and is typically inherited in an autosomal dominant manner. Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.

MalaCards based summary : Myosin Storage Myopathy, also known as myopathy, myosin storage, is related to myopathy, myosin storage, autosomal recessive and myopathy, myosin storage, autosomal dominant, and has symptoms including waddling gait An important gene associated with Myosin Storage Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction.

Genetics Home Reference : 25 Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.

Related Diseases for Myosin Storage Myopathy

Graphical network of the top 20 diseases related to Myosin Storage Myopathy:



Diseases related to Myosin Storage Myopathy

Symptoms & Phenotypes for Myosin Storage Myopathy

UMLS symptoms related to Myosin Storage Myopathy:


waddling gait

Drugs & Therapeutics for Myosin Storage Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myosin Storage Myopathy

Genetic Tests for Myosin Storage Myopathy

Genetic tests related to Myosin Storage Myopathy:

# Genetic test Affiliating Genes
1 Myosin Storage Myopathy 29 MYH7

Anatomical Context for Myosin Storage Myopathy

Publications for Myosin Storage Myopathy

Articles related to Myosin Storage Myopathy:

(show all 14)
# Title Authors Year
1
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. ( 28125727 )
2017
2
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. ( 28973424 )
2017
3
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy. ( 25666907 )
2015
4
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
5
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. ( 21723124 )
2011
6
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. ( 20376763 )
2010
7
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. ( 19336582 )
2009
8
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. ( 19138847 )
2009
9
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. ( 17372140 )
2007
10
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. ( 17336526 )
2007
11
Myosin storage myopathy with cardiomyopathy. ( 17588755 )
2007
12
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. ( 16684601 )
2006
13
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. ( 15699387 )
2005
14
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. ( 14520662 )
2003

Variations for Myosin Storage Myopathy

ClinVar genetic disease variations for Myosin Storage Myopathy:

6
(show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
2 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
3 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
4 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh38 Chromosome 14, 23415021: 23415021
5 MYH7 NM_000257.3(MYH7): c.5702A> T (p.His1901Leu) single nucleotide variant Pathogenic rs121913649 GRCh37 Chromosome 14, 23883056: 23883056
6 MYH7 NM_000257.3(MYH7): c.5702A> T (p.His1901Leu) single nucleotide variant Pathogenic rs121913649 GRCh38 Chromosome 14, 23413847: 23413847
7 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
8 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh38 Chromosome 14, 23415176: 23415176
9 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
10 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
11 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
12 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
13 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
14 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
15 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh37 Chromosome 14, 23884594: 23884594
16 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh38 Chromosome 14, 23415385: 23415385
17 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504355 GRCh37 Chromosome 14, 23884476: 23884476
18 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504355 GRCh38 Chromosome 14, 23415267: 23415267
19 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh37 Chromosome 14, 23891399: 23891399
20 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh38 Chromosome 14, 23422190: 23422190
21 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
22 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
23 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh37 Chromosome 14, 23883032: 23883032
24 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh38 Chromosome 14, 23413823: 23413823
25 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh38 Chromosome 14, 23414056: 23414056
26 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh37 Chromosome 14, 23883265: 23883265
27 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh38 Chromosome 14, 23424922: 23424922
28 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh37 Chromosome 14, 23894131: 23894131
29 MYH7 NM_000257.3(MYH7): c.745C> G (p.Arg249Gly) single nucleotide variant Uncertain significance rs730880852 GRCh37 Chromosome 14, 23900678: 23900678
30 MYH7 NM_000257.3(MYH7): c.745C> G (p.Arg249Gly) single nucleotide variant Uncertain significance rs730880852 GRCh38 Chromosome 14, 23431469: 23431469
31 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh37 Chromosome 14, 23902789: 23902789
32 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh38 Chromosome 14, 23433580: 23433580
33 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Likely benign rs45548631 GRCh38 Chromosome 14, 23412834: 23412834
34 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Likely benign rs45548631 GRCh37 Chromosome 14, 23882043: 23882043
35 MYH7 NM_000257.3(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh37 Chromosome 14, 23888775: 23888775
36 MYH7 NM_000257.3(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh38 Chromosome 14, 23419566: 23419566
37 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh38 Chromosome 14, 23417535: 23417535
38 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh37 Chromosome 14, 23886744: 23886744
39 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
40 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh38 Chromosome 14, 23428534: 23428534
41 MYH7 NM_000257.3(MYH7): c.733-3C> T single nucleotide variant Uncertain significance rs765068619 GRCh38 Chromosome 14, 23431484: 23431484
42 MYH7 NM_000257.3(MYH7): c.733-3C> T single nucleotide variant Uncertain significance rs765068619 GRCh37 Chromosome 14, 23900693: 23900693
43 MYH7 NM_000257.3(MYH7): c.895+12C> A single nucleotide variant Uncertain significance rs186276057 GRCh37 Chromosome 14, 23900098: 23900098
44 MYH7 NM_000257.3(MYH7): c.895+12C> A single nucleotide variant Uncertain significance rs186276057 GRCh38 Chromosome 14, 23430889: 23430889
45 MYH7 NM_000257.3(MYH7): c.*105T> C single nucleotide variant Likely benign rs200550717 GRCh37 Chromosome 14, 23881958: 23881958
46 MYH7 NM_000257.3(MYH7): c.*105T> C single nucleotide variant Likely benign rs200550717 GRCh38 Chromosome 14, 23412749: 23412749
47 MYH7 NM_000257.3(MYH7): c.4908C> T (p.Ala1636=) single nucleotide variant Uncertain significance rs150241539 GRCh38 Chromosome 14, 23416049: 23416049
48 MYH7 NM_000257.3(MYH7): c.4908C> T (p.Ala1636=) single nucleotide variant Uncertain significance rs150241539 GRCh37 Chromosome 14, 23885258: 23885258
49 MYH7 NM_000257.3(MYH7): c.4410G> A (p.Ser1470=) single nucleotide variant Likely benign rs578166720 GRCh38 Chromosome 14, 23417262: 23417262
50 MYH7 NM_000257.3(MYH7): c.4410G> A (p.Ser1470=) single nucleotide variant Likely benign rs578166720 GRCh37 Chromosome 14, 23886471: 23886471

Expression for Myosin Storage Myopathy

Search GEO for disease gene expression data for Myosin Storage Myopathy.

Pathways for Myosin Storage Myopathy

Pathways related to Myosin Storage Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

Pathways related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 MYH6 MYH7
2
Show member pathways
11.66 MYH6 MYH7
3
Show member pathways
11.39 MYH6 MYH7
4 10.85 MYH6 MYH7
5 10.8 MYH6 MYH7
6 10.42 MYH6 MYH7

GO Terms for Myosin Storage Myopathy

Cellular components related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 MYH6 MYH7
2 myosin complex GO:0016459 9.37 MYH6 MYH7
3 stress fiber GO:0001725 9.32 MYH6 MYH7
4 sarcomere GO:0030017 9.26 MYH6 MYH7
5 myofibril GO:0030016 9.16 MYH6 MYH7
6 muscle myosin complex GO:0005859 8.96 MYH6 MYH7
7 myosin filament GO:0032982 8.62 MYH6 MYH7

Biological processes related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.51 MYH6 MYH7
2 muscle contraction GO:0006936 9.49 MYH6 MYH7
3 cardiac muscle contraction GO:0060048 9.48 MYH6 MYH7
4 ATP metabolic process GO:0046034 9.46 MYH6 MYH7
5 muscle filament sliding GO:0030049 9.43 MYH6 MYH7
6 regulation of heart rate GO:0002027 9.4 MYH6 MYH7
7 striated muscle contraction GO:0006941 9.37 MYH6 MYH7
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.32 MYH6 MYH7
9 regulation of the force of heart contraction GO:0002026 9.26 MYH6 MYH7
10 adult heart development GO:0007512 9.16 MYH6 MYH7
11 cardiac muscle hypertrophy in response to stress GO:0014898 8.96 MYH6 MYH7
12 transition between fast and slow fiber GO:0014883 8.62 MIR208B MYH7

Molecular functions related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.43 MYH6 MYH7
2 ATPase activity GO:0016887 9.4 MYH6 MYH7
3 calmodulin binding GO:0005516 9.37 MYH6 MYH7
4 actin filament binding GO:0051015 9.32 MYH6 MYH7
5 microtubule motor activity GO:0003777 9.26 MYH6 MYH7
6 motor activity GO:0003774 9.16 MYH6 MYH7
7 microfilament motor activity GO:0000146 8.96 MYH6 MYH7
8 actin-dependent ATPase activity GO:0030898 8.62 MYH6 MYH7

Sources for Myosin Storage Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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