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 53 25 59 29 6 44 15 72
Myofibrillar Myopathies 25 37
Myotilinopathy 53 72
Myopathy, Myofibrillar, Desmin-Related 72
Alpha Beta Crystallinopathy 53
Protein Surplus Myopathy 53
Myopathy, Desmin Storage 72
Desmin Related Myopathy 53
Desmin Storage Myopathy 53
Myopathy, Myofibrillar 40
Filaminopathy 53
Desminopathy 53
Zaspopathy 53


Orphanet epidemiological data:

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


Orphanet: 59  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:0080307
KEGG 37 H00595
MeSH 44 C580316
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C2678065
Orphanet 59 ORPHA593
UMLS 72 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, 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.

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).

KEGG : 37
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 130)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 34.5 MYOT LDB3
2 myopathy, myofibrillar, 1 34.2 MYOT LDB3 FLNC DES CRYAB
3 myopathy, myofibrillar, 3 33.9 TTN MYOT LDB3 FLNC DNAJB6
4 myopathy, myofibrillar, 2 33.4 MYOT LDB3 FLNC DMD CRYAB ACTA1
5 miyoshi muscular dystrophy 33.1 TTN MYOT DMD
6 myopathy, spheroid body 32.4 TTN MYOT LDB3 FLNC DNAJB6 DES
7 cytoplasmic body myopathy 31.0 DMD DES
8 muscular dystrophy, limb-girdle, autosomal dominant 1 30.9 MYOT DNAJB6 DES
9 atrial standstill 1 30.5 TTN MYOT LMNA DMD DES
10 restrictive cardiomyopathy 30.5 TTN FLNC DES CRYAB ACTA1
11 myopathy 30.5 TTN NEB MYOT LDB3 FLNC DES
12 hypertrophic cardiomyopathy 30.5 TTN LMNA LDB3 DES
13 rigid spine muscular dystrophy 1 30.3 TTN DMD ACTA1
14 autosomal dominant limb-girdle muscular dystrophy 30.3 MYOT LMNA FLNC DNAJB6
15 myopathy, congenital 30.1 NEB DMD ACTA1
16 congenital fiber-type disproportion 30.0 LMNA DMD ACTA1
17 limb-girdle muscular dystrophy 29.9 TTN MYOT LMNA FLNC DNAJB6 DMD
18 muscular dystrophy 28.9 TTN NEB MYOT LMNA FLNC DNAJB6
19 arrhythmogenic right ventricular cardiomyopathy 28.9 TTN LMNA LDB3 DYDC2 DYDC1 DMD
20 dilated cardiomyopathy 28.8 TTN LMNA LDB3 HSPB2 FLNC DMD
21 neuromuscular disease 28.6 TTN SYNC MYOT LMNA HSPB8 DMD
22 muscular disease 28.2 TTN NEB MYOT LMNA LDB3 FLNC
23 fatal infantile hypertonic myofibrillar myopathy 12.6
24 myopathy, myofibrillar, 9, with early respiratory failure 12.4
25 myopathy, myofibrillar, 6 12.4
26 myopathy, myofibrillar, 5 12.4
27 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 12.3
28 myopathy, myofibrillar, 7 12.3
29 myopathy, myofibrillar, 8 12.2
30 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 12.2
31 late-onset distal myopathy, markesbery-griggs type 12.1
32 hereditary proximal myopathy with early respiratory failure 11.8
33 myopathy, distal, 4 11.4
34 welander distal myopathy, swedish type 11.3
35 filamin-related bone disorder 11.2
36 extracardiac rhabdomyoma 10.7 DMD DES
37 muscular dystrophy, limb-girdle, type 1h 10.6 MYOT DNAJB6
38 autosomal recessive limb-girdle muscular dystrophy type 2q 10.6 MYOT DNAJB6
39 hemophagocytic lymphohistiocytosis, familial, 1 10.6
40 cardiomyopathy, dilated, 1b 10.5 LDB3 DMD
41 microcolon 10.5 DMD DES
42 autosomal recessive limb-girdle muscular dystrophy type 2j 10.5 TTN MYOT
43 neuropathy 10.5
44 muscular dystrophy, congenital, 1b 10.5 LDB3 DMD
45 autosomal recessive limb-girdle muscular dystrophy type 2a 10.5 TTN MYOT DNAJB6
46 respiratory failure 10.4
47 peripheral nervous system disease 10.4
48 epithelioid leiomyosarcoma 10.4 SERPINA3 DES
49 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 TTN MYOT DMD
50 central core disease of muscle 10.4 NEB MYOT 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

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ACTA1 BAG3 CRYAB DES DMD FLNC
2 cardiovascular system MP:0005385 10.07 BAG3 DES DMD FLNC HSPB2 HSPB8
3 growth/size/body region MP:0005378 10.06 ACTA1 BAG3 DMD DNAJB6 FLNC KY
4 homeostasis/metabolism MP:0005376 10.03 ACTA1 BAG3 DES DMD FLNC HSPB8
5 mortality/aging MP:0010768 9.93 ACTA1 BAG3 DES DMD DNAJB6 FLNC
6 muscle MP:0005369 9.77 ACTA1 BAG3 CRYAB DES DMD FLNC
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 Recruiting 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:

Heart, Skeletal Muscle, Testes, Eye

Publications for Myofibrillar Myopathy

Articles related to Myofibrillar Myopathy:

(show top 50) (show all 200)
# Title Authors PMID Year
A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report. 38
31421687 2019
Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers. 38
31371504 2019
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family. 38
31215171 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. 38
31024060 2019
Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies. 38
31369751 2019
Novel TRIM32 mutation in sarcotubular myopathy. 38
31309175 2019
Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture. 38
30928807 2019
Motor unit potential changes in myofibrillar myopathy. 38
30913523 2019
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy. 38
30685713 2019
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. 38
30515627 2019
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy. 38
30614851 2019
Expanding the phenotype of filamin-C-related myofibrillar myopathy. 38
30496909 2019
Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy. 38
30591934 2018
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. 38
30145633 2018
Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways. 38
30289745 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 38
30345904 2018
Myofibrillar myopathy in the genomic context. 38
30203143 2018
BAG3 myopathy is not always associated with cardiomyopathy. 38
30061062 2018
Muscle Conditions Affecting Sport Horses. 38
29853158 2018
Myotilinopathy unmasked by statin treatment: A case report. 38
29350769 2018
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. 38
29924655 2018
BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. 38
30023292 2018
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. 38
29211919 2018
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. 38
29599744 2018
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 38
29029362 2018
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. 38
28543538 2017
Hereditary myopathies with early respiratory insufficiency in adults. 38
28181274 2017
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 38
28915917 2017
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 38
28488683 2017
Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity. 38
28793217 2017
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. 38
27904835 2017
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 38
28349680 2017
Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis. 38
30062237 2017
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. 38
27546599 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 38
27708273 2017
Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness. 38
28523323 2017
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. 38
27816332 2017
Mitochondrial dysfunction in myofibrillar myopathy. 38
27618136 2016
New aspects of myofibrillar myopathies. 38
27389816 2016
Myofibrillar and distal myopathies. 38
27638134 2016
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. 38
27633507 2016
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. 38
26234161 2016
Distal Myopathies: Case Studies. 38
27445241 2016
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. 38
27206985 2016
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. 38
27226619 2016
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. 38
27443559 2016
NFκB is a central regulator of protein quality control in response to protein aggregation stresses via autophagy modulation. 38
27075172 2016
Is deltoid muscle biopsy useful in isolated camptocormia? A prospective study. 38
26969127 2016
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. 38
26969713 2016
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 38
27854214 2016

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 5:137206519-137206519 5:137870830-137870830
2 DES NM_001927.4(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 2:220286107-220286107 2:219421385-219421385
3 DES NM_001927.4(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 2:220283230-220283230 2:219418508-219418508
4 DES NM_001927.4(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 2:220285071-220285071 2:219420349-219420349
5 LDB3 NM_007078.3(LDB3): c.869C> T (p.Pro290Leu) single nucleotide variant Pathogenic rs775180716 10:88452301-88452301 10:86692544-86692544
6 DES NM_001927.4(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 2:220288539-220288539 2:219423817-219423817
7 DES NM_001927.4(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Likely pathogenic rs267607485 2:220290442-220290442 2:219425720-219425720
8 LDB3 NM_001080116.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908334 10:88446975-88446975 10:86687218-86687218
9 CRYAB NM_001885.3(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 11:111779693-111779693 11:111908969-111908969
10 CRYAB NM_001885.3(CRYAB): c.3G> A (p.Met1Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516686 11:111782446-111782446 11:111911722-111911722
11 DES NM_001927.4(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 2:220284876-220284876 2:219420154-219420154
12 DNM2 NM_001005360.2(DNM2): c.949T> C (p.Phe317Leu) single nucleotide variant Uncertain significance rs1057518858 19:10897339-10897339 19:10786663-10786663
13 BAG3 NM_004281.3(BAG3): c.772C> T (p.Arg258Trp) single nucleotide variant Benign/Likely benign rs117671123 10:121432031-121432031 10:119672519-119672519
14 DES NM_001927.4(DES): c.735+20C> T single nucleotide variant Benign 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:

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

Pathways related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
5 10.6 DMD ACTA1

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 cytoskeleton GO:0005856 9.92 NEB MYOT LDB3 KY FLNC DMD
2 I band GO:0031674 9.51 TTN CRYAB
3 striated muscle thin filament GO:0005865 9.49 TTN ACTA1
4 costamere GO:0043034 9.48 FLNC DMD
5 Set1C/COMPASS complex GO:0048188 9.46 DYDC2 DYDC1
6 sarcomere GO:0030017 9.46 TTN PYROXD1 NEB ACTA1
7 cardiac myofibril GO:0097512 9.43 DES CRYAB
8 contractile fiber GO:0043292 9.43 NEB DES CRYAB
9 Z disc GO:0030018 9.4 TTN SYNC NEB MYOT LDB3 KY
10 sarcolemma GO:0042383 9.35 SYNC MYOT FLNC DMD DES
11 cytosol GO:0005829 10.22 TTN SYNC NEB LMNA HSPB8 HSPB2
12 cytoplasm GO:0005737 10.21 TTN PYROXD1 NEB MYOT LDB3 HSPB8

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.54 NEB DMD CRYAB
2 regulation of cellular response to heat GO:1900034 9.46 HSPB8 DNAJB6 CRYAB BAG3
3 histone H3-K4 methylation GO:0051568 9.43 DYDC2 DYDC1
4 intermediate filament organization GO:0045109 9.4 DNAJB6 DES
5 muscle contraction GO:0006936 9.35 TTN MYOT DES CRYAB ACTA1
6 skeletal muscle thin filament assembly GO:0030240 9.32 TTN ACTA1
7 muscle fiber development GO:0048747 9.26 FLNC DMD
8 muscle filament sliding GO:0030049 9.02 TTN NEB DMD DES ACTA1

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 DMD DES ACTA1
2 myosin binding GO:0017022 9.37 DMD ACTA1
3 muscle alpha-actinin binding GO:0051371 9.26 TTN LDB3
4 cytoskeletal protein binding GO:0008092 9.26 LDB3 FLNC DES CRYAB
5 structural constituent of muscle GO:0008307 8.92 TTN NEB MYOT DMD
6 protein binding GO:0005515 10.09 TTN SERPINA3 PYROXD1 NEB MYOT LMNA

Sources for Myofibrillar Myopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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