MCID: MYF003
MIFTS: 42

Myofibrillar Myopathy malady

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

Aliases & Classifications for Myofibrillar Myopathy

Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 23 50 24 25 69
Myofibrillar Myopathies 25 29
Myotilinopathy 50 69
Myopathy, Myofibrillar, Desmin-Related 69
Alpha Beta Crystallinopathy 50
Protein Surplus Myopathy 50
Myopathy, Desmin Storage 69
Desmin Related Myopathy 50
Desmin Storage Myopathy 50
Filaminopathy 50
Desminopathy 50
Zaspopathy 50

Characteristics:

GeneReviews:

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

Classifications:



Summaries for Myofibrillar Myopathy

NIH Rare Diseases : 50 myofibrillar myopathies (mfm) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. peripheral neuropathy or cardiomyopathy may also be present. most people with mfm begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. it may be caused by mutations in any of several genes, including des, cryab, myot, ldb3, flnc,  and bag3; the signs and symptoms of mfm can vary widely depending on the condition's genetic cause. it is inherited in an autosomal dominant manner. treatment may include a pacemaker and implantable cardioverter defibrillator (icd) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness. last updated: 3/18/2011

MalaCards based summary : Myofibrillar Myopathy, also known as myofibrillar myopathies, is related to myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related and myopathy, spheroid body, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways/superpathways are Dilated cardiomyopathy and Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related phenotypes are behavior/neurological and cardiovascular system

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, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 2
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy Myopathy, Myofibrillar, 8

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

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 32.1 CRYAB DMD FLNC LDB3 MYOT
2 myopathy, spheroid body 32.0 FLNC MYOT
3 myofibrillar myopathy 7 12.2
4 dnajb6-related myofibrillar myopathy 11.9
5 fhl1-related myofibrillar myopathy 11.9
6 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 11.9
7 myopathy, myofibrillar, 2 11.8
8 myopathy, myofibrillar, 1 11.8
9 myopathy, myofibrillar, 6 11.7
10 myopathy, myofibrillar, 3 11.7
11 myopathy, myofibrillar, 4 11.7
12 myopathy, myofibrillar, 5 11.6
13 myopathy, proximal, with early respiratory muscle involvement 11.0
14 late-onset distal myopathy, markesbery-griggs type 11.0
15 arrhythmogenic right ventricular dysplasia 1 10.9
16 myopathy, myofibrillar, 8 10.9
17 hereditary proximal myopathy with early respiratory failure 10.9
18 myopathy 10.7
19 cardiomyopathy 10.2
20 polyposis syndrome, hereditary mixed, 2 10.2 LDB3 MYOT
21 chronic atrial and intestinal dysrhythmia 10.2 DNAJB6 MYOT
22 facio digito genital syndrome recessive form 10.2 DES DMD
23 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DES DMD
24 autosomal recessive nonsyndromic deafness 47 10.2 DMD LDB3
25 dentinogenesis imperfecta, shields type iii 10.1 DNAJB6 MYOT
26 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DMD LDB3
27 hypospadias 3, autosomal 10.1 DNAJB6 MYOT
28 cardiomyopathy, familial restrictive, 3 10.1 DMD LDB3
29 lipodystrophy, familial partial, 2 10.1 DMD LDB3
30 inclusion body myositis 10.1
31 arrhythmogenic right ventricular cardiomyopathy 10.1
32 myositis 10.1
33 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 DES DNAJB6 MYOT
34 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DNAJB6 FLNC MYOT
35 inflammatory bowel disease 14 10.0 DMD FLNC MYOT
36 fibular hemimelia, bilateral 10.0 LDB3 TTN
37 myopathy, early-onset, with fatal cardiomyopathy 10.0 LDB3 MYOT TTN
38 fibular hemimelia, unilateral 10.0 LDB3 TTN
39 congenital absence of upper arm and forearm with hand present, bilateral 10.0 LDB3 TTN
40 epilepsy, generalized, with febrile seizures plus, type 1 10.0 DES MYOT
41 restrictive cardiomyopathy 10.0
42 spinocerebellar ataxia 11 10.0 MYOT TTN
43 myopathy, distal, with anterior tibial onset 9.9 DMD MYOT TTN
44 ostertagiasis 9.9 CRYAB DES TTN
45 prosthetic joint infection 9.9 DMD FHL1
46 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 DMD TTN
47 adams-oliver syndrome 2 9.9 DES DMD TTN
48 phototoxic dermatitis 9.9 DES DMD TTN
49 autoimmune thyroid disease 2 9.8 DNAJB6 LDB3 MYOT TTN
50 parametrium malignant neoplasm 9.8 DES DMD FHL1

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 BAG3 CRYAB DES DMD FHL1 FLNC
2 cardiovascular system MP:0005385 9.7 BAG3 DES DMD FHL1 FLNC LDB3
3 growth/size/body region MP:0005378 9.5 BAG3 DMD DNAJB6 FHL1 FLNC LDB3
4 muscle MP:0005369 9.23 DES DMD FHL1 FLNC LDB3 TTN

Drugs & Therapeutics for Myofibrillar Myopathy

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mechanisms of Age-Related Muscle Loss Completed NCT03113279
2 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:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy 29 24 MYOT

Anatomical Context for Myofibrillar Myopathy

MalaCards organs/tissues related to Myofibrillar Myopathy:

39
Skeletal Muscle, Heart

Publications for Myofibrillar Myopathy

Articles related to Myofibrillar Myopathy:

(show top 50) (show all 70)
id Title Authors Year
1
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ( 28436997 )
2017
2
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
3
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
4
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016
5
Mitochondrial dysfunction in myofibrillar myopathy. ( 27618136 )
2016
6
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. ( 27443559 )
2016
7
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
8
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ( 26969713 )
2016
9
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. ( 25866181 )
2015
10
BAG3 myofibrillar myopathy presenting with cardiomyopathy. ( 25728519 )
2015
11
Severe congenital actin related myopathy with myofibrillar myopathy features. ( 25913210 )
2015
12
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. ( 26234161 )
2015
13
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. ( 24758315 )
2014
14
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. ( 25208129 )
2014
15
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. ( 25273835 )
2014
16
Anesthetic considerations in myofibrillar myopathy. ( 25216331 )
2014
17
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. ( 25541946 )
2014
18
Novel recessive myotilin mutation causes severe myofibrillar myopathy. ( 24928145 )
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
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. ( 23425003 )
2013
21
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013
22
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. ( 23238331 )
2013
23
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
24
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. ( 22706277 )
2012
25
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012
26
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. ( 22199023 )
2012
27
Camptocormia as presenting sign in myofibrillar myopathy. ( 22749474 )
2012
28
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. ( 22806379 )
2012
29
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. ( 22153487 )
2012
30
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. ( 22106715 )
2011
31
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. ( 21676617 )
2011
32
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. ( 22094483 )
2011
33
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. ( 21481933 )
2011
34
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. ( 21130652 )
2011
35
[Desmin filaments and their disorganization associated with myofibrillar myopathies]. ( 21982405 )
2011
36
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. ( 21528768 )
2010
37
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. ( 20448486 )
2010
38
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. ( 20605452 )
2010
39
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. ( 19050726 )
2009
40
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. ( 19253808 )
2009
41
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. ( 19151983 )
2009
42
Myofibrillar myopathies: a clinical and myopathological guide. ( 19563540 )
2009
43
Molecular pathology of myofibrillar myopathies. ( 18764962 )
2008
44
Myofibrillar myopathies. ( 18769253 )
2008
45
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. ( 18653338 )
2008
46
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. ( 18197198 )
2008
47
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. ( 17005401 )
2006
48
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. ( 15978589 )
2005
49
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. ( 15929027 )
2005
50
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. ( 15912881 )
2005

Variations for Myofibrillar Myopathy

ClinVar genetic disease variations for Myofibrillar Myopathy:

6 (show all 11)
id 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 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
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> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
5 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624
6 DES NM_001927.3(DES): c.1069G> C (p.Ala357Pro) single nucleotide variant Pathogenic rs58898021 GRCh37 Chromosome 2, 220286107: 220286107
7 DES NM_001927.3(DES): c.1346A> C (p.Lys449Thr) single nucleotide variant Pathogenic/Likely pathogenic rs267607485 GRCh37 Chromosome 2, 220290442: 220290442
8 DES NM_001927.3(DES): c.46C> T (p.Arg16Cys) single nucleotide variant Pathogenic rs60798368 GRCh37 Chromosome 2, 220283230: 220283230
9 DES NM_001927.3(DES): c.735+3A> G single nucleotide variant Pathogenic rs267607483 GRCh37 Chromosome 2, 220285071: 220285071
10 DES NM_001927.3(DES): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs150974575 GRCh38 Chromosome 2, 219423817: 219423817
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 GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 BAG3 CRYAB DES DMD DNAJB6 FHL1
2 cytoskeleton GO:0005856 9.83 DES DMD FLNC LDB3 MYOT
3 M band GO:0031430 9.4 CRYAB TTN
4 I band GO:0031674 9.37 CRYAB TTN
5 costamere GO:0043034 9.32 DMD FLNC
6 Z disc GO:0030018 9.28 BAG3 CRYAB DES DMD DNAJB6 FLNC
7 cardiac myofibril GO:0097512 9.26 CRYAB DES
8 sarcolemma GO:0042383 9.26 DES DMD FLNC MYOT
9 cytosol GO:0005829 10.06 BAG3 CRYAB DES DMD DNAJB6 FHL1

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

id Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.58 BAG3 CRYAB DNAJB6
2 cardiac muscle contraction GO:0060048 9.46 DMD TTN
3 sarcomere organization GO:0045214 9.43 LDB3 TTN
4 muscle organ development GO:0007517 9.43 CRYAB DMD FHL1
5 intermediate filament organization GO:0045109 9.37 DES DNAJB6
6 regulation of cellular response to heat GO:1900034 9.33 BAG3 CRYAB DNAJB6
7 muscle fiber development GO:0048747 9.32 DMD FLNC
8 muscle filament sliding GO:0030049 9.13 DES DMD TTN
9 muscle contraction GO:0006936 8.92 CRYAB DES MYOT TTN

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 BAG3 CRYAB DES DMD DNAJB6 FHL1
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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