MCID: MYF003
MIFTS: 42

Myofibrillar Myopathy

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

Aliases & Classifications for Myofibrillar Myopathy

MalaCards integrated aliases for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 24 53 25 29 6 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:

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 DES (Desmin), 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 growth/size/body region

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 58)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 33.6 LDB3 MYOT
2 myopathy, myofibrillar, 1 32.4 CRYAB DES LDB3 MYOT
3 myopathy, myofibrillar, 3 32.1 DNAJB6 FLNC LDB3 MYOT
4 myopathy, myofibrillar, 2 31.3 CRYAB DMD FLNC LDB3 MYOT
5 restrictive cardiomyopathy 30.1 CRYAB DES FLNC
6 arrhythmogenic right ventricular cardiomyopathy 29.7 DES DMD LDB3
7 myopathy, spheroid body 29.3 BAG3 CRYAB DES DNAJB6 FLNC LDB3
8 muscular dystrophy 28.0 DES DMD DNAJB6 FLNC MYOT
9 dilated cardiomyopathy 27.6 BAG3 CRYAB DES DMD FLNC LDB3
10 myopathy 25.0 BAG3 CRYAB DES DMD DNAJB6 FLNC
11 myopathy, myofibrillar, 6 12.1
12 rigid spine muscular dystrophy 1 12.0
13 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 12.0
14 myopathy, myofibrillar, 7 11.8
15 myopathy, myofibrillar, 5 11.8
16 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 11.8
17 late-onset distal myopathy, markesbery-griggs type 11.6
18 hereditary proximal myopathy with early respiratory failure 11.4
19 hereditary myopathy with early respiratory failure 11.2
20 myopathy, myofibrillar, 8 11.2
21 muscular dystrophy, limb-girdle, type 2j 10.4 LDB3 MYOT
22 muscular dystrophy, limb-girdle, type 1a 10.3 FLNC MYOT
23 muscular dystrophy, limb-girdle, type 1h 10.2 DNAJB6 MYOT
24 extracardiac rhabdomyoma 10.2 DES DMD
25 autosomal dominant limb-girdle muscular dystrophy type 1g 10.2 DNAJB6 MYOT
26 cytoplasmic body myopathy 10.2 DES DMD
27 central core disease of muscle 10.2 DES MYOT
28 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DES DMD
29 cardiomyopathy, dilated, 1b 10.2 DMD LDB3
30 autosomal dominant limb-girdle muscular dystrophy type 1c 10.2 DNAJB6 MYOT
31 microcolon 10.2 DES DMD
32 muscular dystrophy, congenital, 1b 10.2 DMD LDB3
33 muscular dystrophy, limb-girdle, type 1f 10.1 DNAJB6 MYOT
34 inclusion body myositis 10.1
35 myositis 10.1
36 reducing body myopathy 10.0 DES DMD
37 cardiomyopathy, dilated, 1d 10.0 DMD LDB3
38 autosomal dominant limb-girdle muscular dystrophy 9.9 DNAJB6 FLNC MYOT
39 muscular dystrophy, limb-girdle, type 1e 9.9 DES DNAJB6 MYOT
40 cardiac arrhythmia 9.9
41 aceruloplasminemia 9.9
42 ataxia-oculomotor apraxia 3 9.9
43 polyglucosan body myopathy 1 with or without immunodeficiency 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, 1a 9.8 DMD LDB3
50 muscular dystrophy, limb-girdle, type 2b 9.8 DMD MYOT

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 9.8 BAG3 CRYAB DES DMD FLNC KY
2 growth/size/body region MP:0005378 9.7 BAG3 DMD DNAJB6 FLNC KY LDB3
3 muscle MP:0005369 9.5 BAG3 CRYAB DES DMD FLNC KY
4 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 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 75)
# 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
Clinical and histopathological features of myofibrillar myopathy in Warmblood horses. ( 28543538 )
2017
4
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ( 28436997 )
2017
5
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
6
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. ( 29211919 )
2017
7
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
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
Mitochondrial dysfunction in myofibrillar myopathy. ( 27618136 )
2016
11
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
12
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016
13
Severe congenital actin related myopathy with myofibrillar myopathy features. ( 25913210 )
2015
14
BAG3 myofibrillar myopathy presenting with cardiomyopathy. ( 25728519 )
2015
15
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. ( 25866181 )
2015
16
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. ( 26234161 )
2015
17
Anesthetic considerations in myofibrillar myopathy. ( 25216331 )
2014
18
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. ( 25541946 )
2014
19
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. ( 25273835 )
2014
20
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. ( 25208129 )
2014
21
Novel recessive myotilin mutation causes severe myofibrillar myopathy. ( 24928145 )
2014
22
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. ( 24758315 )
2014
23
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
24
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013
25
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. ( 23425003 )
2013
26
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. ( 23238331 )
2013
27
Camptocormia as presenting sign in myofibrillar myopathy. ( 22749474 )
2012
28
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
29
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. ( 22706277 )
2012
30
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. ( 22153487 )
2012
31
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. ( 22199023 )
2012
32
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. ( 22806379 )
2012
33
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012
34
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. ( 21481933 )
2011
35
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. ( 21676617 )
2011
36
[Desmin filaments and their disorganization associated with myofibrillar myopathies]. ( 21982405 )
2011
37
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. ( 22106715 )
2011
38
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. ( 21130652 )
2011
39
[Myofibrillar myopathy]. ( 22068470 )
2011
40
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. ( 22094483 )
2011
41
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. ( 21528768 )
2010
42
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. ( 20605452 )
2010
43
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. ( 20448486 )
2010
44
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. ( 19151983 )
2009
45
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. ( 19253808 )
2009
46
Myofibrillar myopathies: a clinical and myopathological guide. ( 19563540 )
2009
47
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. ( 19050726 )
2009
48
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. ( 18197198 )
2008
49
Molecular pathology of myofibrillar myopathies. ( 18764962 )
2008
50
Myofibrillar myopathies. ( 18769253 )
2008

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6
(show all 18)
# 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 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh37 Chromosome 2, 220286107: 220286107
6 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh38 Chromosome 2, 219421385: 219421385
7 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Likely pathogenic rs267607485 GRCh37 Chromosome 2, 220290442: 220290442
8 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Likely pathogenic rs267607485 GRCh38 Chromosome 2, 219425720: 219425720
9 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh37 Chromosome 2, 220283230: 220283230
10 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh38 Chromosome 2, 219418508: 219418508
11 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh37 Chromosome 2, 220285071: 220285071
12 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh38 Chromosome 2, 219420349: 219420349
13 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh37 Chromosome 2, 220288539: 220288539
14 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh38 Chromosome 2, 219423817: 219423817
15 LDB3 NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs775180716 GRCh38 Chromosome 10, 86692544: 86692544
16 LDB3 NM_001080114.1(LDB3): c.728C> T (p.Pro243Leu) single nucleotide variant Pathogenic rs775180716 GRCh37 Chromosome 10, 88452301: 88452301
17 DNM2 NM_001005360.2(DNM2): c.949T> C (p.Phe317Leu) single nucleotide variant Uncertain significance rs1057518858 GRCh38 Chromosome 19, 10786663: 10786663
18 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

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

# Super pathways Score Top Affiliating Genes
1 10.48 DES DMD

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 costamere GO:0043034 9.37 DMD FLNC
3 contractile fiber GO:0043292 9.32 CRYAB DES
4 Z disc GO:0030018 9.28 BAG3 CRYAB DES DMD DNAJB6 FLNC
5 cardiac myofibril GO:0097512 9.26 CRYAB DES
6 sarcolemma GO:0042383 9.26 DES DMD FLNC MYOT
7 cytoplasm GO:0005737 10.06 BAG3 CRYAB DES DMD DNAJB6 FLNC

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

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.5 BAG3 CRYAB DNAJB6
2 muscle filament sliding GO:0030049 9.37 DES DMD
3 intermediate filament organization GO:0045109 9.26 DES DNAJB6
4 muscle fiber development GO:0048747 9.16 DMD FLNC
5 muscle contraction GO:0006936 9.13 CRYAB DES MYOT
6 regulation of cellular response to heat GO:1900034 8.8 BAG3 CRYAB DNAJB6

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 DMD MYOT
2 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
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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