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 24 53 25 29 6 15 73
Myofibrillar Myopathies 25 37
Myotilinopathy 53 73
Myopathy, Myofibrillar, Desmin-Related 73
Alpha Beta Crystallinopathy 53
Myopathy, Myofibrillar ) 40
Protein Surplus Myopathy 53
Myopathy, Desmin Storage 73
Desmin Related Myopathy 53
Desmin Storage Myopathy 53
Myopathy, Myofibrillar 40
Filaminopathy 53
Desminopathy 53
Zaspopathy 53

Characteristics:

GeneReviews:

24
Penetrance Data are insufficient to draw conclusions about penetrance...

Classifications:



External Ids:

Disease Ontology 12 DOID:0080307
KEGG 37 H00595

Summaries for Myofibrillar Myopathy

NIH Rare Diseases : 53 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). 

MalaCards based summary : Myofibrillar Myopathy, also known as myofibrillar myopathies, is related to myopathy, myofibrillar, 4 and myopathy, myofibrillar, 1, 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 behavior/neurological and cardiovascular system

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

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.

GeneReviews: NBK1499

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 94)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 33.6 LDB3 MYOT
2 myopathy, myofibrillar, 1 33.4 CRYAB DES FLNC LDB3 MYOT
3 myopathy, myofibrillar, 3 33.1 DNAJB6 FLNC LDB3 MYOT TTN
4 myopathy, myofibrillar, 2 33.0 ACTA1 CRYAB DMD FLNC LDB3 MYOT
5 myopathy, spheroid body 31.9 BAG3 CRYAB DES DNAJB6 FLNC LDB3
6 rigid spine muscular dystrophy 1 31.8 ACTA1 DMD TTN
7 myopathy 31.0 ACTA1 CRYAB DES FLNC LDB3 MYOT
8 miyoshi muscular dystrophy 30.4 DMD MYOT TTN
9 restrictive cardiomyopathy 30.4 ACTA1 CRYAB DES FLNC TTN
10 arrhythmogenic right ventricular cardiomyopathy 29.8 DES DMD DYDC1 DYDC2 LDB3 LMNA
11 limb-girdle muscular dystrophy 29.5 DMD DNAJB6 FLNC LMNA MYOT TCAP
12 dilated cardiomyopathy 29.2 BAG3 CRYAB DES DMD FLNC HSPB2
13 muscular dystrophy 29.0 ACTA1 DES DMD DNAJB6 FLNC LMNA
14 fatal infantile hypertonic myofibrillar myopathy 12.4
15 myopathy, myofibrillar, 6 12.3
16 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 12.1
17 late-onset distal myopathy, markesbery-griggs type 12.1
18 myopathy, myofibrillar, 5 12.0
19 myopathy, myofibrillar, 7 12.0
20 myopathy, myofibrillar, 8 11.9
21 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 11.8
22 hereditary proximal myopathy with early respiratory failure 11.5
23 hereditary myopathy with early respiratory failure 11.3
24 welander distal myopathy, swedish type 11.1
25 myopathy, distal, 4 11.1
26 muscle disorders 10.4
27 extracardiac rhabdomyoma 10.3 DES DMD
28 cytoplasmic body myopathy 10.3 DES DMD
29 muscular dystrophy, limb-girdle, type 1h 10.3 DNAJB6 MYOT
30 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 DNAJB6 MYOT
31 inclusion body myositis 10.3
32 myositis 10.3
33 autosomal dominant limb-girdle muscular dystrophy type 1f 10.2 DNAJB6 MYOT
34 autosomal dominant limb-girdle muscular dystrophy type 1g 10.2 DNAJB6 MYOT
35 microcolon 10.2 DES DMD
36 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 MYOT TTN
37 cardiomyopathy, dilated, 1b 10.2 DMD LDB3
38 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 DES DNAJB6 MYOT
39 muscular dystrophy, congenital, 1b 10.2 DMD LDB3
40 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 DNAJB6 MYOT TTN
41 intermediate congenital nemaline myopathy 10.2 ACTA1 NEB
42 central core disease of muscle 10.2 DES MYOT NEB
43 autosomal dominant limb-girdle muscular dystrophy type 1a 10.2 FLNC MYOT
44 typical congenital nemaline myopathy 10.2 ACTA1 NEB
45 childhood-onset nemaline myopathy 10.2 ACTA1 NEB
46 severe congenital nemaline myopathy 10.2 ACTA1 NEB
47 foot drop 10.1 ACTA1 NEB
48 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 MYOT TCAP
49 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 LDB3 LMNA TTN
50 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 LDB3 LMNA TTN

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

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ACTA1 BAG3 CRYAB DES DMD FLNC
2 cardiovascular system MP:0005385 10.11 BAG3 DES DMD FLNC HSPB2 HSPB8
3 cellular MP:0005384 10.02 BAG3 CRYAB DES DMD HSPB2 HSPB8
4 growth/size/body region MP:0005378 10 ACTA1 BAG3 DMD DNAJB6 FLNC LDB3
5 homeostasis/metabolism MP:0005376 9.97 ACTA1 BAG3 DES DMD FLNC HSPB8
6 adipose tissue MP:0005375 9.91 ACTA1 BAG3 DMD LMNA NEB TARDBP
7 mortality/aging MP:0010768 9.77 ACTA1 BAG3 DES DMD DNAJB6 FLNC
8 muscle MP:0005369 9.47 ACTA1 BAG3 CRYAB DES DMD FLNC

Drugs & Therapeutics for Myofibrillar 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 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:

41
Heart, Skeletal Muscle, Testes

Publications for Myofibrillar Myopathy

Articles related to Myofibrillar Myopathy:

(show top 50) (show all 83)
# Title Authors Year
1
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
2
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. ( 29924655 )
2018
3
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. ( 30145633 )
2018
4
BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. ( 30023292 )
2018
5
Myofibrillar myopathy in the genomic context. ( 30203143 )
2018
6
Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways. ( 30289745 )
2018
7
Expanding the phenotype of filamin-C-related myofibrillar myopathy. ( 30496909 )
2018
8
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family. ( 29866061 )
2018
9
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. ( 28543538 )
2017
10
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
11
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. ( 29211919 )
2017
12
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. ( 28269794 )
2017
13
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. ( 27633507 )
2016
14
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. ( 27443559 )
2016
15
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ( 26969713 )
2016
16
Mitochondrial dysfunction in myofibrillar myopathy. ( 27618136 )
2016
17
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
18
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016
19
New aspects of myofibrillar myopathies. ( 27389816 )
2016
20
Severe congenital actin related myopathy with myofibrillar myopathy features. ( 25913210 )
2015
21
BAG3 myofibrillar myopathy presenting with cardiomyopathy. ( 25728519 )
2015
22
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. ( 25866181 )
2015
23
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. ( 26234161 )
2015
24
Biomechanical characterization of myofibrillar myopathies. ( 25264173 )
2015
25
Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies. ( 25891782 )
2015
26
Mitochondrial abnormalities in the myofibrillar myopathies. ( 26204918 )
2015
27
Myofibrillar myopathies: State of the art, present and future challenges. ( 26342832 )
2015
28
Immunoblot as a potential diagnostic tool for myofibrillar myopathies. ( 26383991 )
2015
29
Anesthetic considerations in myofibrillar myopathy. ( 25216331 )
2014
30
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. ( 25273835 )
2014
31
Novel recessive myotilin mutation causes severe myofibrillar myopathy. ( 24928145 )
2014
32
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. ( 24758315 )
2014
33
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. ( 24668811 )
2014
34
Mitochondrial abnormalities in myofibrillar myopathies. ( 24361111 )
2014
35
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013
36
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. ( 23425003 )
2013
37
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. ( 23238331 )
2013
38
Diagnostic impact of myotonic discharges in myofibrillar myopathies. ( 23605961 )
2013
39
Myofibrillar myopathies. ( 23622358 )
2013
40
Myofibrillar myopathies: new developments. ( 23995273 )
2013
41
Camptocormia as presenting sign in myofibrillar myopathy. ( 22749474 )
2012
42
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
43
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. ( 22706277 )
2012
44
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. ( 22199023 )
2012
45
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. ( 22806379 )
2012
46
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012
47
Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. ( 23044792 )
2012
48
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. ( 21481933 )
2011
49
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. ( 21676617 )
2011
50
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. ( 22106715 )
2011

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Pathogenic rs121908334 GRCh37 Chromosome 10, 88446975: 88446975
2 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Pathogenic rs121908334 GRCh38 Chromosome 10, 86687218: 86687218
3 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
4 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh38 Chromosome 5, 137870830: 137870830
5 BAG3 NM_004281.3(BAG3): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117671123 GRCh37 Chromosome 10, 121432031: 121432031
6 BAG3 NM_004281.3(BAG3): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117671123 GRCh38 Chromosome 10, 119672519: 119672519
7 CRYAB NM_001885.2(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 GRCh37 Chromosome 11, 111779693: 111779693
8 CRYAB NM_001885.2(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 GRCh38 Chromosome 11, 111908969: 111908969
9 CRYAB NM_001885.2(CRYAB): c.3G> A (p.Met1Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516686 GRCh37 Chromosome 11, 111782446: 111782446
10 CRYAB NM_001885.2(CRYAB): c.3G> A (p.Met1Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516686 GRCh38 Chromosome 11, 111911722: 111911722
11 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh37 Chromosome 2, 220284876: 220284876
12 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh38 Chromosome 2, 219420154: 219420154
13 DES NM_001927.3(DES): c.735+20C> T single nucleotide variant Benign rs151226355 GRCh37 Chromosome 2, 220285088: 220285088
14 DES NM_001927.3(DES): c.735+20C> T single nucleotide variant Benign rs151226355 GRCh38 Chromosome 2, 219420366: 219420366
15 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh37 Chromosome 2, 220286107: 220286107
16 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh38 Chromosome 2, 219421385: 219421385
17 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Likely pathogenic rs267607485 GRCh37 Chromosome 2, 220290442: 220290442
18 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Likely pathogenic rs267607485 GRCh38 Chromosome 2, 219425720: 219425720
19 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh37 Chromosome 2, 220283230: 220283230
20 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh38 Chromosome 2, 219418508: 219418508
21 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh37 Chromosome 2, 220285071: 220285071
22 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh38 Chromosome 2, 219420349: 219420349
23 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh38 Chromosome 2, 219423817: 219423817
24 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh37 Chromosome 2, 220288539: 220288539
25 LDB3 NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs775180716 GRCh38 Chromosome 10, 86692544: 86692544
26 LDB3 NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs775180716 GRCh37 Chromosome 10, 88452301: 88452301
27 DNM2 NM_001005360.2(DNM2): c.949T> C (p.Phe317Leu) single nucleotide variant Uncertain significance rs1057518858 GRCh38 Chromosome 19, 10786663: 10786663
28 DNM2 NM_001005360.2(DNM2): c.949T> C (p.Phe317Leu) single nucleotide variant Uncertain significance rs1057518858 GRCh37 Chromosome 19, 10897339: 10897339

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:

37
# 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 12)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.55 DES DMD FLNC MYOT SYNC
2 I band GO:0031674 9.54 CRYAB TCAP TTN
3 costamere GO:0043034 9.51 DMD FLNC
4 contractile fiber GO:0043292 9.5 CRYAB DES NEB
5 striated muscle thin filament GO:0005865 9.49 ACTA1 TTN
6 Set1C/COMPASS complex GO:0048188 9.48 DYDC1 DYDC2
7 cardiac myofibril GO:0097512 9.43 CRYAB DES
8 Z disc GO:0030018 9.4 BAG3 CRYAB DES DMD DNAJB6 FLNC
9 sarcomere GO:0030017 9.35 ACTA1 NEB PYROXD1 TCAP TTN
10 cytosol GO:0005829 10.25 ACTA1 BAG3 CRYAB DES DMD DNAJB6
11 cytoplasm GO:0005737 10.19 ACTA1 BAG3 CRYAB DES DMD DNAJB6
12 cytoskeleton GO:0005856 10 ACTA1 DES DMD FLNC LDB3 MYOT

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.69 CRYAB DMD NEB
2 cardiac muscle contraction GO:0060048 9.61 DMD TCAP TTN
3 histone H3-K4 methylation GO:0051568 9.58 DYDC1 DYDC2
4 cardiac muscle tissue morphogenesis GO:0055008 9.57 TCAP TTN
5 cardiac myofibril assembly GO:0055003 9.56 TCAP TTN
6 intermediate filament organization GO:0045109 9.55 DES DNAJB6
7 cardiac muscle fiber development GO:0048739 9.54 TCAP TTN
8 sarcomere organization GO:0045214 9.54 LDB3 TCAP TTN
9 response to muscle stretch GO:0035994 9.52 DMD TCAP
10 muscle fiber development GO:0048747 9.49 DMD FLNC
11 cardiac muscle hypertrophy GO:0003300 9.48 TCAP TTN
12 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TCAP TTN
13 regulation of cellular response to heat GO:1900034 9.46 BAG3 CRYAB DNAJB6 HSPB8
14 skeletal muscle thin filament assembly GO:0030240 9.43 ACTA1 TCAP TTN
15 detection of muscle stretch GO:0035995 9.4 TCAP TTN
16 muscle contraction GO:0006936 9.35 ACTA1 CRYAB DES MYOT TTN
17 sarcomerogenesis GO:0048769 9.32 TCAP TTN
18 muscle filament sliding GO:0030049 9.1 ACTA1 DES DMD NEB TCAP TTN

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 ACTA1 DES DMD
2 myosin binding GO:0017022 9.37 ACTA1 DMD
3 muscle alpha-actinin binding GO:0051371 9.26 LDB3 TTN
4 cytoskeletal protein binding GO:0008092 9.26 CRYAB DES FLNC LDB3
5 structural constituent of muscle GO:0008307 9.02 DMD MYOT NEB TCAP TTN
6 protein binding GO:0005515 10.11 ACTA1 BAG3 CRYAB DES DMD DNAJB6

Sources for Myofibrillar 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
Content
Loading form....