MCID: MYF003
MIFTS: 48

Myofibrillar Myopathy

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

Aliases & Classifications for Myofibrillar Myopathy

MalaCards integrated aliases for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 12 52 25 58 29 6 43 15 71
Myofibrillar Myopathies 25 36
Myotilinopathy 52 71
Myopathy, Myofibrillar, Desmin-Related 71
Alpha Beta Crystallinopathy 52
Protein Surplus Myopathy 52
Myopathy, Desmin Storage 71
Desmin Related Myopathy 52
Desmin Storage Myopathy 52
Myopathy, Myofibrillar 39
Filaminopathy 52
Desminopathy 52
Zaspopathy 52

Characteristics:

Orphanet epidemiological data:

58
myofibrillar myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080307
KEGG 36 H00595
MeSH 43 C580316
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 72 C2678065
Orphanet 58 ORPHA593
UMLS 71 C1832370 C1836607 C2678065 more

Summaries for Myofibrillar Myopathy

Genetics Home Reference : 25 Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).

MalaCards based summary : Myofibrillar Myopathy, also known as myofibrillar myopathies, is related to myopathy, myofibrillar, 6 and myopathy, myofibrillar, 7, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and MAPK signaling pathway. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles.

NIH Rare Diseases : 52 Myofibrilar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk). Some affected individuals also experience muscle stiffness, aching, or cramps. Other symptoms that can be associated with MFM include pain and tingling in the limbs (peripheral neuropathy ) or an enlarged and weakened heart (cardiomyopathy ). Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the disease can appear anytime between infancy and late adulthood. MFM is caused by a mutation (change) in any of several genes , including DES , CRYAB , MYOT , LDB3 , FLNC , BAG3 , FHL1 , TTN , and DNAJB6 . The signs and symptoms of MFM can vary depending on the genetic cause. For some people, the exact genetic cause may be unknown. The mode of inheritance of the disease depends on exactly which gene is changed. MFM can be diagnosed with a muscle biopsy or other studies of muscle function. The diagnosis can be confirmed with genetic testing . Treatment may include physical therapy and assistive devices such as a cane or wheelchair for those with advanced muscle weakness. Affected individuals who have cardiomyopathy or an abnormal heart rhythm (arrhythmia ) may require a pacemaker or implantable cardioverter defibrillator (ICD) .

KEGG : 36 Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is more pronounced than proximal weakness. All disease proteins identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share molecular pathways involved in actin dynamics organized by the Z-disk. Besides accumulations of these proteins, congophilic amyloid products of myofibrillar degradation and ectopic aggregation of dystrophin and gelsolin appear in abnormal myofibers.

Related Diseases for Myofibrillar Myopathy

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

Diseases related to Myofibrillar Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 6 34.6 HSPB8 BAG3
2 myopathy, myofibrillar, 7 34.4 PYROXD1 KY
3 myopathy, myofibrillar, 5 34.3 SYNC MYOT LDB3 FLNC CRYAB BAG3
4 myopathy, myofibrillar, 4 34.2 TCAP NEB MYOT LDB3 FLNC CRYAB
5 myopathy, myofibrillar, 3 34.2 TTN TCAP SYNC MYOT LDB3 FLNC
6 myopathy, myofibrillar, 9, with early respiratory failure 34.2 TTN TCAP NEB MYOT LDB3 FLNC
7 myopathy, myofibrillar, 2 34.1 SYNC MYOT LDB3 HSPB8 FLNC DNAJB6
8 myopathy, myofibrillar, 1 33.9 TTN SYNC NEB MYOT LMNA LDB3
9 myopathy, spheroid body 33.7 TCAP NEB MYOT LDB3 FLNC DES
10 miyoshi muscular dystrophy 33.2 TTN TCAP NEB MYOT DMD DES
11 respiratory failure 31.5 TTN SERPINA3 FHL1 DMD ACTA1
12 peripheral nervous system disease 31.4 SERPINA3 LMNA HSPB8 DMD
13 atrial standstill 1 31.3 TTN TCAP MYOT LMNA DMD DES
14 myositis 31.3 TTN SERPINA3 NEB DMD
15 atrioventricular block 31.3 TTN LMNA DES CRYAB
16 hyaline body myopathy 31.2 TTN NEB MYOT ACTA1
17 arrhythmogenic right ventricular cardiomyopathy 31.1 TTN LMNA LDB3 DMD DES
18 cytoplasmic body myopathy 31.1 DMD DES
19 restrictive cardiomyopathy 31.1 TTN LMNA FLNC DMD DES CRYAB
20 limb-girdle muscular dystrophy 31.0 TTN TCAP MYOT LMNA FLNC DNAJB6
21 autosomal dominant distal myopathy 31.0 MYOT DMD DES ACTA1
22 emery-dreifuss muscular dystrophy 30.9 LMNA FHL1 DMD DES
23 myopathy, congenital 30.8 TTN NEB DMD ACTA1
24 myopathy 30.8 TTN TCAP TARDBP SYNC SERPINA3 PYROXD1
25 autosomal recessive limb-girdle muscular dystrophy 30.8 TTN TCAP PYROXD1 MYOT DMD DES
26 autosomal dominant limb-girdle muscular dystrophy 30.8 TCAP MYOT LMNA FLNC DNAJB6 BAG3
27 congenital fiber-type disproportion 30.6 TTN NEB MYOT LMNA DMD ACTA1
28 hypertrophic cardiomyopathy 30.6 TTN TCAP LMNA LDB3 FLNC FHL1
29 rigid spine muscular dystrophy 1 30.6 TTN MYOT LMNA FHL1 DMD BAG3
30 left ventricular noncompaction 30.4 TTN TCAP NEB MYOT LMNA LDB3
31 muscular dystrophy 30.4 TTN TCAP SYNC PYROXD1 NEB MYOT
32 dilated cardiomyopathy 30.2 TTN TCAP SERPINA3 MYOT LMNA LDB3
33 neuromuscular disease 29.9 TTN TCAP SYNC SERPINA3 NEB MYOT
34 fatal infantile hypertonic myofibrillar myopathy 12.6
35 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 12.3
36 myopathy, myofibrillar, 8 12.3
37 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 12.2
38 late-onset distal myopathy, markesbery-griggs type 12.1
39 hereditary proximal myopathy with early respiratory failure 11.8
40 myopathy, distal, 4 11.4
41 welander distal myopathy 11.3
42 filamin-related bone disorder 11.2
43 extracardiac rhabdomyoma 10.7 DMD DES
44 werdnig-hoffman disease 10.7 TTN DES
45 muscular dystrophy, limb-girdle, type 1h 10.7 MYOT DNAJB6
46 giant axonal neuropathy 2 10.7 HSPB8 BAG3
47 congenital epulis 10.7 SERPINA3 DES
48 microcolon 10.7 DMD DES
49 scapuloperoneal syndrome, neurogenic, kaeser type 10.7 NEB MYOT DES
50 epulis 10.7 SERPINA3 DES

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



Diseases related to Myofibrillar Myopathy

Symptoms & Phenotypes for Myofibrillar Myopathy

UMLS symptoms related to Myofibrillar Myopathy:


facial paresis

GenomeRNAi Phenotypes related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.72 DNAJB6
2 Decreased viability GR00107-A-1 9.72 HSPB8
3 Decreased viability GR00221-A-1 9.72 HSPB8
4 Decreased viability GR00221-A-2 9.72 TTN
5 Decreased viability GR00221-A-4 9.72 HSPB8 TTN
6 Decreased viability GR00240-S-1 9.72 LMNA TCAP
7 Decreased viability GR00249-S 9.72 BAG3 LMNA SERPINA3 TCAP
8 Decreased viability GR00301-A 9.72 HSPB8
9 Decreased viability GR00342-S-1 9.72 TTN
10 Decreased viability GR00342-S-3 9.72 TTN
11 Decreased viability GR00381-A-1 9.72 LDB3 SYNC
12 Decreased viability GR00386-A-1 9.72 BAG3 KY LMNA SYNC
13 Decreased viability GR00402-S-2 9.72 DMD NEB SYNC TCAP

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ACTA1 BAG3 CRYAB DES DMD FHL1
2 homeostasis/metabolism MP:0005376 10.19 ACTA1 BAG3 CRYAB DES DMD FHL1
3 growth/size/body region MP:0005378 10.13 ACTA1 BAG3 DMD DNAJB6 FHL1 FLNC
4 cardiovascular system MP:0005385 10.11 BAG3 DES DMD FHL1 FLNC HSPB8
5 mortality/aging MP:0010768 9.97 ACTA1 BAG3 DES DMD DNAJB6 FLNC
6 muscle MP:0005369 9.86 ACTA1 BAG3 CRYAB DES DMD FHL1
7 respiratory system MP:0005388 9.17 BAG3 DMD FLNC HSPB8 KY LDB3

Drugs & Therapeutics for Myofibrillar Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402

Search NIH Clinical Center for Myofibrillar Myopathy

Cochrane evidence based reviews: myofibrillar myopathy

Genetic Tests for Myofibrillar Myopathy

Genetic tests related to Myofibrillar Myopathy:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 29

Anatomical Context for Myofibrillar Myopathy

MalaCards organs/tissues related to Myofibrillar Myopathy:

40
Heart, Skeletal Muscle, Testes, Eye

Publications for Myofibrillar Myopathy

Articles related to Myofibrillar Myopathy:

(show top 50) (show all 212)
# Title Authors PMID Year
1
A mutation update for the FLNC gene in myopathies and cardiomyopathies. 61
32112656 2020
2
First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC. 61
32516863 2020
3
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review. 61
32453099 2020
4
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese. 61
32022900 2020
5
Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy. 61
32453872 2020
6
BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease. 61
31853710 2020
7
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. 61
32160286 2020
8
BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy. 61
31953038 2020
9
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes. 61
32005492 2020
10
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 61
32509353 2020
11
[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene]. 61
31761835 2019
12
Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies. 61
31369751 2019
13
Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers. 61
31371504 2019
14
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family. 61
31215171 2019
15
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. 61
31024060 2019
16
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report. 61
31421687 2019
17
Motor unit potential changes in myofibrillar myopathy. 61
30913523 2019
18
Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture. 61
30928807 2019
19
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy. 61
30685713 2019
20
Novel TRIM32 mutation in sarcotubular myopathy. 61
31309175 2019
21
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. 61
30515627 2019
22
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy. 61
30614851 2019
23
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family. 61
31998224 2019
24
Expanding the phenotype of filamin-C-related myofibrillar myopathy. 61
30496909 2019
25
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. 61
30145633 2018
26
Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy. 61
30591934 2018
27
Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways. 61
30289745 2018
28
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 61
30345904 2018
29
Myofibrillar myopathy in the genomic context. 61
30203143 2018
30
BAG3 myopathy is not always associated with cardiomyopathy. 61
30061062 2018
31
Muscle Conditions Affecting Sport Horses. 61
29853158 2018
32
Myotilinopathy unmasked by statin treatment: A case report. 61
29350769 2018
33
BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. 61
30023292 2018
34
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. 61
29924655 2018
35
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. 61
29211919 2018
36
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. 61
29599744 2018
37
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 61
29029362 2018
38
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. 61
28543538 2017
39
Hereditary myopathies with early respiratory insufficiency in adults. 61
28181274 2017
40
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 61
28915917 2017
41
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 61
28488683 2017
42
Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity. 61
28793217 2017
43
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. 61
27904835 2017
44
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 61
28349680 2017
45
Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis. 61
30062237 2017
46
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. 61
27546599 2017
47
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 61
27708273 2017
48
Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness. 61
28523323 2017
49
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. 61
27816332 2017
50
Mitochondrial dysfunction in myofibrillar myopathy. 61
27618136 2016

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT):c.179C>G (p.Ser60Cys)SNV Pathogenic 5836 rs121908458 5:137206519-137206519 5:137870830-137870830
2 DES NM_001927.4(DES):c.1069G>C (p.Ala357Pro)SNV Pathogenic 66390 rs58898021 2:220286107-220286107 2:219421385-219421385
3 DES NM_001927.4(DES):c.46C>T (p.Arg16Cys)SNV Pathogenic 66413 rs60798368 2:220283230-220283230 2:219418508-219418508
4 LDB3 NM_007078.3(LDB3):c.869C>T (p.Pro290Leu)SNV Pathogenic 253222 rs775180716 10:88452301-88452301 10:86692544-86692544
5 FLNC NM_001458.4(FLNC):c.8129G>A (p.Trp2710Ter)SNV Pathogenic/Likely pathogenic 694402 7:128498528-128498528 7:128858474-128858474
6 DES NM_001927.4(DES):c.1346A>C (p.Lys449Thr)SNV Likely pathogenic 66400 rs267607485 2:220290442-220290442 2:219425720-219425720
7 DES NM_001927.4(DES):c.638C>T (p.Ala213Val)SNV Conflicting interpretations of pathogenicity 44265 rs41272699 2:220284876-220284876 2:219420154-219420154
8 LDB3 NM_007078.3(LDB3):c.690-4678C>TSNV Conflicting interpretations of pathogenicity 4728 rs121908334 10:88446975-88446975 10:86687218-86687218
9 DNM2 NM_001005360.2(DNM2):c.949T>C (p.Phe317Leu)SNV Uncertain significance 374046 rs1057518858 19:10897339-10897339 19:10786663-10786663
10 BAG3 NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)SNV Benign/Likely benign 39466 rs117671123 10:121432031-121432031 10:119672519-119672519
11 DES NM_001927.4(DES):c.735+20C>TSNV Benign 44269 rs151226355 2:220285088-220285088 2:219420366-219420366

Expression for Myofibrillar Myopathy

Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for Myofibrillar Myopathy

Pathways related to Myofibrillar Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141
2 MAPK signaling pathway hsa04010
3 Focal adhesion hsa04510

GO Terms for Myofibrillar Myopathy

Cellular components related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.25 TTN TCAP SYNC NEB LMNA HSPB8
2 cytoplasm GO:0005737 10.11 TTN TCAP TARDBP SYNC PYROXD1 NEB
3 cytoskeleton GO:0005856 10.03 NEB MYOT LDB3 KY FLNC DMD
4 stress fiber GO:0001725 9.65 LDB3 BAG3 ACTA1
5 sarcolemma GO:0042383 9.65 SYNC MYOT FLNC DMD DES
6 I band GO:0031674 9.54 TTN TCAP CRYAB
7 costamere GO:0043034 9.52 FLNC DMD
8 striated muscle thin filament GO:0005865 9.51 TTN ACTA1
9 contractile fiber GO:0043292 9.5 NEB DES CRYAB
10 chaperone complex GO:0101031 9.49 HSPB8 BAG3
11 cardiac myofibril GO:0097512 9.46 DES CRYAB
12 Z disc GO:0030018 9.44 TTN TCAP SYNC NEB MYOT LDB3
13 sarcomere GO:0030017 9.35 TTN TCAP PYROXD1 NEB ACTA1

Biological processes related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.67 TTN TCAP DMD
2 muscle organ development GO:0007517 9.67 NEB FHL1 DMD CRYAB
3 sarcomere organization GO:0045214 9.63 TTN TCAP LDB3
4 intermediate filament organization GO:0045109 9.58 DNAJB6 DES
5 response to muscle stretch GO:0035994 9.57 TCAP DMD
6 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
7 regulation of cellular response to heat GO:1900034 9.56 HSPB8 DNAJB6 CRYAB BAG3
8 cardiac myofibril assembly GO:0055003 9.55 TTN TCAP
9 cardiac muscle fiber development GO:0048739 9.54 TTN TCAP
10 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
11 skeletal muscle myosin thick filament assembly GO:0030241 9.51 TTN TCAP
12 muscle fiber development GO:0048747 9.5 NEB FLNC DMD
13 detection of muscle stretch GO:0035995 9.48 TTN TCAP
14 positive regulation of aggrephagy GO:1905337 9.43 HSPB8 BAG3
15 sarcomerogenesis GO:0048769 9.4 TTN TCAP
16 muscle contraction GO:0006936 9.35 TTN MYOT DES CRYAB ACTA1
17 skeletal muscle thin filament assembly GO:0030240 9.33 TTN TCAP ACTA1
18 muscle filament sliding GO:0030049 9.1 TTN TCAP NEB DMD DES ACTA1

Molecular functions related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 TTN TCAP TARDBP SERPINA3 PYROXD1 NEB
2 actin binding GO:0003779 9.55 NEB MYOT LDB3 FLNC DMD
3 structural constituent of cytoskeleton GO:0005200 9.5 DMD DES ACTA1
4 muscle alpha-actinin binding GO:0051371 9.37 TTN LDB3
5 cytoskeletal protein binding GO:0008092 9.26 LDB3 FLNC DES CRYAB
6 structural constituent of muscle GO:0008307 9.02 TTN TCAP NEB MYOT DMD

Sources for Myofibrillar Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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