MCID: MYF003
MIFTS: 40

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 23 50 24 25 29 69
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
Myofibrillar Myopathies 25
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 myotilinopathy, is related to myopathy, myofibrillar, 3 and muscular dystrophy, rigid spine, 1, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways/superpathways is 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, 7
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 5
Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 2 Myopathy, Myofibrillar, 8
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

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

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 33.2 FLNC MYOT
2 muscular dystrophy, rigid spine, 1 32.4 DMD TTN
3 myopathy, spheroid body 31.4 FLNC LDB3 MYOT TTN
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 11.8
10 myopathy, myofibrillar, 4 11.7
11 myopathy, myofibrillar, 7 11.7
12 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 11.7
13 myopathy, myofibrillar, 5 11.6
14 myopathy, myofibrillar, 8 11.1
15 myopathy, proximal, with early respiratory muscle involvement 11.0
16 late-onset distal myopathy, markesbery-griggs type 11.0
17 hereditary proximal myopathy with early respiratory failure 10.9
18 myopathy 10.7
19 cardiomyopathy, dilated, 1c, with or without lvnc 10.5 LDB3 MYOT
20 schizophrenia 16 10.5 DES MYOT
21 autosomal recessive limb-girdle muscular dystrophy type 2b 10.4 FLNC MYOT
22 extrasystoles short stature hyperpigmentation microcephaly 10.3 DES DMD
23 autosomal recessive nonsyndromic deafness 3 10.3 DMD LDB3
24 d-minus hemolytic uremic syndrome 10.3 DES DMD
25 ulnar hemimelia, unilateral 10.3 LDB3 TTN
26 minicore myopathy with external ophthalmoplegia 10.3 DES MYOT
27 ulnar hemimelia, bilateral 10.3 LDB3 TTN
28 tibial hemimelia, bilateral 10.3 LDB3 TTN
29 muscular dystrophy, congenital, 1b 10.3 DMD LDB3
30 cardiomyopathy 10.2
31 cardiomyopathy, dilated, 1d 10.2 DMD LDB3
32 cardiomyopathy, dilated, 1a 10.2 DMD LDB3
33 salih myopathy 10.1 LDB3 MYOT TTN
34 congenital myopathy 10.1 DMD TTN
35 inclusion body myositis 10.1
36 arrhythmogenic right ventricular cardiomyopathy 10.1
37 myositis 10.1
38 eosinophilic variant of chromophobe renal cell carcinoma 10.0 DMD MYOT
39 restrictive cardiomyopathy 10.0
40 oesophagostomiasis 9.9 CRYAB DES TTN
41 autosomal recessive limb-girdle muscular dystrophy type 2e 9.9 DMD TTN
42 lyme disease 9.9 DMD MYOT TTN
43 cardiomyopathy, dilated, 1i 9.9 CRYAB DES LDB3 MYOT
44 peeling skin syndrome 2 9.9 DMD MYOT TTN
45 cerebellar ataxia 9.8
46 cataract 9.8
47 dilated cardiomyopathy 9.8
48 respiratory failure 9.8
49 intestinal pseudo-obstruction 9.8
50 muscular dystrophy 9.8

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 9.92 KY LDB3 TTN BAG3 CRYAB DES
2 cardiovascular system MP:0005385 9.73 BAG3 DES DMD FLNC LDB3 TTN
3 growth/size/body region MP:0005378 9.63 BAG3 DMD FLNC KY LDB3 TTN
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:


id 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:

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 71)
id Title Authors Year
1
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
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
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. ( 27443559 )
2016
5
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
6
Mitochondrial dysfunction in myofibrillar myopathy. ( 27618136 )
2016
7
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ( 26969713 )
2016
8
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016
9
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
10
Severe congenital actin related myopathy with myofibrillar myopathy features. ( 25913210 )
2015
11
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. ( 25866181 )
2015
12
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. ( 26234161 )
2015
13
BAG3 myofibrillar myopathy presenting with cardiomyopathy. ( 25728519 )
2015
14
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
15
Anesthetic considerations in myofibrillar myopathy. ( 25216331 )
2014
16
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. ( 25208129 )
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
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. ( 24758315 )
2014
20
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. ( 25273835 )
2014
21
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. ( 23425003 )
2013
22
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. ( 23238331 )
2013
23
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. ( 23486992 )
2013
24
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. ( 22199023 )
2012
25
Camptocormia as presenting sign in myofibrillar myopathy. ( 22749474 )
2012
26
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. ( 22706277 )
2012
27
BAG3-related myofibrillar myopathy in a Chinese family. ( 21361913 )
2012
28
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. ( 22153487 )
2012
29
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. ( 22395865 )
2012
30
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. ( 22806379 )
2012
31
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. ( 22094483 )
2011
32
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. ( 22106715 )
2011
33
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. ( 21130652 )
2011
34
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. ( 21481933 )
2011
35
[Desmin filaments and their disorganization associated with myofibrillar myopathies]. ( 21982405 )
2011
36
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. ( 21676617 )
2011
37
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. ( 20605452 )
2010
38
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. ( 21528768 )
2010
39
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. ( 20448486 )
2010
40
Myofibrillar myopathies: a clinical and myopathological guide. ( 19563540 )
2009
41
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. ( 19253808 )
2009
42
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. ( 19050726 )
2009
43
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. ( 19151983 )
2009
44
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. ( 18197198 )
2008
45
Myofibrillar myopathies. ( 18769253 )
2008
46
Molecular pathology of myofibrillar myopathies. ( 18764962 )
2008
47
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. ( 18653338 )
2008
48
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. ( 17005401 )
2006
49
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. ( 15912881 )
2005
50
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. ( 15978589 )
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 GRCh37 Chromosome 2, 220288539: 220288539
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 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 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 Z disc GO:0030018 9.28 BAG3 CRYAB DES DMD FLNC KY
6 cardiac myofibril GO:0097512 9.26 CRYAB DES
7 sarcolemma GO:0042383 9.26 DES DMD FLNC MYOT
8 contractile fiber GO:0043292 9.02 DES
9 cytoplasm GO:0005737 10.03 BAG3 CRYAB DES DMD FLNC LDB3

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.26 BAG3 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
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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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