MCID: MYF003
MIFTS: 44

Myofibrillar Myopathy

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

Aliases & Classifications for Myofibrillar Myopathy

MalaCards integrated aliases for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 23 49 24 28 69
Myofibrillar Myopathies 24 36
Myotilinopathy 49 69
Myopathy, Myofibrillar, Desmin-Related 69
Alpha Beta Crystallinopathy 49
Protein Surplus Myopathy 49
Myopathy, Desmin Storage 69
Desmin Related Myopathy 49
Desmin Storage Myopathy 49
Filaminopathy 49
Desminopathy 49
Zaspopathy 49

Characteristics:

GeneReviews:

23
Penetrance Data are insufficient to draw conclusions about penetrance...

Classifications:



External Ids:

KEGG 36 H00595

Summaries for Myofibrillar Myopathy

NIH Rare Diseases : 49 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).  Last updated: 10/24/2017

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

Genetics Home Reference : 24 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 63)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 33.4 LDB3 MYOT
2 myopathy, myofibrillar, 1 32.7 CRYAB DES LDB3 MYOT
3 rigid spine muscular dystrophy 1 32.4 DMD TTN
4 myopathy, myofibrillar, 3 32.4 FLNC LDB3 MYOT TTN
5 myopathy, myofibrillar, 2 31.7 CRYAB DMD FLNC LDB3 MYOT
6 myopathy, spheroid body 30.3 BAG3 CRYAB DES FLNC LDB3 MYOT
7 restrictive cardiomyopathy 29.5 CRYAB DES FLNC TTN
8 arrhythmogenic right ventricular cardiomyopathy 29.2 DES DMD LDB3 TTN
9 muscular dystrophy 28.9 DES DMD MYOT TTN
10 dilated cardiomyopathy 27.9 BAG3 CRYAB DES DMD LDB3 TTN
11 myopathy 27.3 BAG3 CRYAB DES DMD FLNC KY
12 myopathy, myofibrillar, 6 12.0
13 kyphoscoliosis-lateral tongue atrophy-myofibrillar myopathy syndrome 12.0
14 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 12.0
15 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 11.8
16 myopathy, myofibrillar, 7 11.8
17 myopathy, myofibrillar, 5 11.8
18 late-onset distal myopathy, markesbery-griggs type 11.5
19 hereditary proximal myopathy with early respiratory failure 11.3
20 myopathy, myofibrillar, 8 11.2
21 hereditary myopathy with early respiratory failure 11.2
22 muscular dystrophy, limb-girdle, type 1e 10.3 DES MYOT
23 central core disease of muscle 10.3 DES MYOT
24 muscular dystrophy, limb-girdle, type 1a 10.3 FLNC MYOT
25 autosomal dominant limb-girdle muscular dystrophy 10.2 FLNC MYOT
26 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LDB3 TTN
27 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 LDB3 TTN
28 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 LDB3 TTN
29 inclusion body myositis 10.1
30 myositis 10.1
31 muscular dystrophy, limb-girdle, type 2j 10.0 LDB3 MYOT TTN
32 extracardiac rhabdomyoma 10.0 DES DMD
33 cytoplasmic body myopathy 10.0 DES DMD
34 microcolon 10.0 DES DMD
35 cardiomyopathy, dilated, 1b 10.0 DMD LDB3
36 muscular dystrophy, congenital, 1b 9.9 DMD LDB3
37 blood group, i system 9.9
38 cardiac arrhythmia 9.9
39 ataxia and polyneuropathy, adult-onset 9.9
40 aceruloplasminemia 9.9
41 ataxia-oculomotor apraxia 3 9.9
42 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
43 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
44 cataract 9.9
45 respiratory failure 9.9
46 intestinal pseudo-obstruction 9.9
47 neuropathy 9.9
48 distal hereditary motor neuropathies 9.9
49 cardiomyopathy, dilated, 1d 9.8 DMD LDB3
50 cardiomyopathy, dilated, 1a 9.8 DMD LDB3

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 BAG3 CRYAB DES DMD FLNC KY
2 cardiovascular system MP:0005385 9.73 TTN BAG3 DES DMD FLNC LDB3
3 growth/size/body region MP:0005378 9.7 BAG3 DMD FLNC KY LDB3 PYROXD1
4 muscle MP:0005369 9.56 BAG3 CRYAB DES DMD FLNC KY
5 respiratory system MP:0005388 9.02 BAG3 DMD FLNC KY LDB3

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 28

Anatomical Context for Myofibrillar Myopathy

MalaCards organs/tissues related to Myofibrillar Myopathy:

38
Heart, Skeletal Muscle, Testes

Publications for Myofibrillar Myopathy

Articles related to Myofibrillar Myopathy:

(show top 50) (show all 73)
# Title Authors Year
1
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. ( 29029362 )
2018
2
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. ( 28543538 )
2017
3
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ( 28436997 )
2017
4
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
5
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. ( 29211919 )
2017
6
Mitochondrial dysfunction in myofibrillar myopathy. ( 27618136 )
2016
7
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
8
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. ( 27443559 )
2016
9
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ( 26969713 )
2016
10
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
11
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016
12
BAG3 myofibrillar myopathy presenting with cardiomyopathy. ( 25728519 )
2015
13
Severe congenital actin related myopathy with myofibrillar myopathy features. ( 25913210 )
2015
14
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. ( 25866181 )
2015
15
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. ( 26234161 )
2015
16
Novel recessive myotilin mutation causes severe myofibrillar myopathy. ( 24928145 )
2014
17
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. ( 25208129 )
2014
18
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. ( 25273835 )
2014
19
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
20
Anesthetic considerations in myofibrillar myopathy. ( 25216331 )
2014
21
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. ( 24758315 )
2014
22
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. ( 25541946 )
2014
23
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. ( 23425003 )
2013
24
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. ( 23238331 )
2013
25
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013
26
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012
27
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. ( 22706277 )
2012
28
Camptocormia as presenting sign in myofibrillar myopathy. ( 22749474 )
2012
29
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. ( 22806379 )
2012
30
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. ( 22199023 )
2012
31
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
32
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. ( 22153487 )
2012
33
[Desmin filaments and their disorganization associated with myofibrillar myopathies]. ( 21982405 )
2011
34
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. ( 22106715 )
2011
35
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. ( 21481933 )
2011
36
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. ( 21130652 )
2011
37
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. ( 21676617 )
2011
38
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. ( 22094483 )
2011
39
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. ( 20448486 )
2010
40
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. ( 20605452 )
2010
41
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. ( 21528768 )
2010
42
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. ( 19151983 )
2009
43
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. ( 19253808 )
2009
44
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. ( 19050726 )
2009
45
Myofibrillar myopathies: a clinical and myopathological guide. ( 19563540 )
2009
46
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. ( 18653338 )
2008
47
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. ( 18197198 )
2008
48
Myofibrillar myopathies. ( 18769253 )
2008
49
Molecular pathology of myofibrillar myopathies. ( 18764962 )
2008
50
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. ( 17005401 )
2006

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh37 Chromosome 2, 220286107: 220286107
2 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Pathogenic/Likely pathogenic rs267607485 GRCh37 Chromosome 2, 220290442: 220290442
3 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh37 Chromosome 2, 220283230: 220283230
4 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh37 Chromosome 2, 220285071: 220285071
5 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh38 Chromosome 2, 219423817: 219423817
6 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Pathogenic rs121908334 GRCh37 Chromosome 10, 88446975: 88446975
7 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
8 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
9 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
10 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624
11 LDB3 NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs775180716 GRCh38 Chromosome 10, 86692544: 86692544

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.37 DES DMD TTN
2 10.66 DES DMD TTN

GO Terms for Myofibrillar Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 DES DMD FLNC KY LDB3 MYOT
2 M band GO:0031430 9.46 CRYAB TTN
3 I band GO:0031674 9.4 CRYAB TTN
4 costamere GO:0043034 9.37 DMD FLNC
5 contractile fiber GO:0043292 9.32 CRYAB DES
6 Z disc GO:0030018 9.28 BAG3 CRYAB DES DMD FLNC KY
7 cardiac myofibril GO:0097512 9.26 CRYAB DES
8 sarcolemma GO:0042383 9.26 DES DMD FLNC MYOT
9 cytoplasm GO:0005737 10.09 BAG3 CRYAB DES DMD FLNC LDB3

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.32 DMD TTN
2 sarcomere organization GO:0045214 9.26 LDB3 TTN
3 muscle fiber development GO:0048747 9.16 DMD FLNC
4 muscle filament sliding GO:0030049 9.13 DES DMD TTN
5 muscle contraction GO:0006936 8.92 CRYAB DES MYOT TTN

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

# Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.43 BAG3 CRYAB DMD
2 muscle alpha-actinin binding GO:0051371 9.16 LDB3 TTN
3 structural constituent of muscle GO:0008307 9.13 DMD MYOT TTN
4 cytoskeletal protein binding GO:0008092 8.92 CRYAB DES FLNC LDB3

Sources for Myofibrillar Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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