MCID: MYF003
MIFTS: 43

Myofibrillar Myopathy malady

Neuronal category

Summaries for Myofibrillar Myopathy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Myofibrillar Myopathy, also known as filaminopathy, is related to spheroid body myopathy and limb-girdle muscular dystrophy, type 1a. An important gene associated with Myofibrillar Myopathy is MYOT (myotilin), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. The compounds cadmium and digitonin have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are cardiovascular system and muscle.

Genetics Home Reference:21 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 summary for mfm

Aliases & Classifications for Myofibrillar Myopathy

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
myofibrillar myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

myofibrillar myopathy 19 43 20 22 21 49 61
filaminopathy 43 20
desminopathy 43 20
alpha beta crystallinopathy 43
myopathy, desmin storage 61
desmin related myopathy 43
desmin storage myopathy 43
desmin-related myopathy 45
myofibrillar myopathies 21


External Ids:

ICD10 via Orphanet26 G71.8

Related Diseases for Myofibrillar Myopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Myofibrillar Myopathy family:

myopathy, myofibrillar, 1 myopathy, myofibrillar, 3
myopathy, myofibrillar, 5 myopathy, myofibrillar, 4
myopathy, myofibrillar, 6 myopathy, myofibrillar, 2

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1spheroid body myopathy30.5MYOT, DES
2limb-girdle muscular dystrophy, type 1a30.3TCAP, MYOT, FLNC
3myotilinopathy30.2MYOT
4nemaline myopathy30.0MYOT, DES
5limb-girdle muscular dystrophy30.0TCAP, MYOT, FLNC
6myopathy, myofibrillar, 110.5
7muscular dystrophy, rigid spine, 110.5
8bag3-related myofibrillar myopathy10.4
9inclusion body myositis10.4
10myopathy, myofibrillar, 310.4
11myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.4
12dnajb6-related myofibrillar myopathy10.3
13fhl1-related myofibrillar myopathy10.3
14myopathy, myofibrillar, 210.3
15rigid spine syndrome10.2
16cardiomyopathy, dilated, 1a10.2
17myopathy congenital10.1
18cataract skeletal anomalies10.1
19hereditary myopathy with early respiratory failure10.1
20ataxia10.1
21myopathy, myofibrillar, 410.1
22arrhythmogenic right ventricular dysplasia 110.1
23cataract, congenital10.1
24distal myopathy 410.0
25myopathy, myofibrillar, 510.0
26nemaline myopathy 510.0
27nemaline myopathy 110.0
28neuropathy10.0MYOT
29alexander disease10.0CRYAB, DES
30cataract10.0CRYAB, HSPB2
31central core myopathy10.0MYOT, DES
32limb-girdle muscular dystrophy, type 2g10.0TCAP, MYOT
33limb-girdle muscular dystrophy, type 2b10.0MYOT, TCAP
34distal muscular dystrophy10.0MYOT, DES
35dilated cardiomyopathy10.0TCAP, LDB3, CRYAB, DES
36astrocytoma10.0CRYAB, TUBG1, HSPB2
37noonan syndrome10.0TCAP, MYOT, CRYAB, DES, FLNC
38neuromuscular disease10.0CRYAB, DES, MYOT, TCAP, SYNC
39muscular dystrophy10.0MYOT, TCAP, SYNC, DES, FLNC
40calpainopathy10.0MYOT, TCAP
41glioblastoma multiforme10.0BLZF1, CRYAB, TUBG1
42prion disease10.0CLU, BLZF1, CRYAB
43alzheimer's disease10.0GSN, CLU, TUBG1, HSPB2, CRYAB, BLZF1
44malignant glioma10.0TUBG1, HSPB2, CRYAB, CLU, GSN
45myopathy10.0CRYAB, SYNC, GSN, LDB3, TCAP, BLZF1

Graphical network of the top 20 diseases related to Myofibrillar Myopathy:



Diseases related to myofibrillar myopathy

Clinical Features for Myofibrillar Myopathy

Drugs & Therapeutics for Myofibrillar Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Myofibrillar Myopathy

Drug clinical trials:

Search ClinicalTrials for Myofibrillar Myopathy

Search NIH Clinical Center for Myofibrillar Myopathy

Search CenterWatch for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy20 22 MYOT
2 Desminopathy20 DES
3 Filaminopathy20 FLNC

Anatomical Context for Myofibrillar Myopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Myofibrillar Myopathy:

33
Heart, Skeletal muscle

Animal Models for Myofibrillar Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5HSPB2, XIRP1, LDB3, TCAP, CLU, BAG3
2MP:00053698.4HSPB2, TCAP, CLU, BAG3, SYNC, DES

Publications for Myofibrillar Myopathy

Sources:
51PubMed
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Articles related to Myofibrillar Myopathy:

(show all 43)
idTitleAuthorsYear
1
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. (23975679)
2014
2
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
3
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
4
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
5
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (24268659)
2013
6
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
7
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
8
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
9
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
10
BAG3-related myofibrillar myopathy in a Chinese family. (21361913)
2012
11
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. (22395865)
2012
12
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
2011
13
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
14
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
15
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
16
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
17
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. (21481933)
2011
18
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
19
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
20
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. (19253808)
2009
21
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. (19050726)
2009
22
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
23
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
24
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. (16288872)
2005
25
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
26
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
27
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
28
Mutations in myotilin cause myofibrillar myopathy. (15111675)
2004
29
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
30
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
31
Cardiovascular manifestations of myofibrillar myopathy. (15590364)
2004
32
Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. (15198127)
2004
33
Mitochondrial dysfunction in myofibrillar myopathy. (12581339)
2003
34
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
35
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature. (12365725)
2002
36
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
37
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
1999
38
Myofibrillar myopathy. (10553983)
1999
39
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
40
Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. (9258254)
1997
41
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. (8627347)
1996
42
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. (8627346)
1996
43
Myofibrillar Myopathy (20301672)
1993

Genetic Variations for Myofibrillar Myopathy

Expression for genes affiliated with Myofibrillar Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Myofibrillar Myopathy

Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for genes affiliated with Myofibrillar Myopathy

Sources:
12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SYNM, DES, TUBG1
29.7GSN, DES, FLNC, TUBG1

Compounds for genes affiliated with Myofibrillar Myopathy

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
See all sources

Compounds related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1cadmium45 2411.1GSN, CRYAB, HSPB2
2digitonin4510.0GSN, CLU
3methionine4510.0CRYAB, DES, MAT1A, GSN
4dihydrotestosterone45 29 11 2412.9GSN, CLU, DES
5nacl459.8BLZF1, DES, TUBG1, HSPB2
6polyacrylamide459.7HSPB2, CRYAB, DES, BLZF1, GSN
7actinomycin d459.7CRYAB, DES, BLZF1, CLU
8superoxide45 2410.7HSPB2, CRYAB, BLZF1, CLU, GSN
9h2o2459.6CLU, BLZF1, DES, CRYAB, HSPB2
10steroid459.6CRYAB, DES, BLZF1, CLU, GSN
11lysine459.5GSN, BLZF1, DES, CRYAB, TUBG1, HSPB2
12atp45 2910.4TUBG1, FHL1, MAT1A, BLZF1, CLU, GSN
13tyrosine458.7HSPB2, TUBG1, DES, MAT1A, BLZF1, CLU

GO Terms for genes affiliated with Myofibrillar Myopathy

Sources:
16Gene Ontology
See all sources

Cellular components related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1costamereGO:04303410.1SYNM, FLNC
2fascia adherensGO:00591610.0DES, XIRP1
3sarcolemmaGO:0423839.8FLNC, DES, SYNC, MYOT
4intermediate filamentGO:0058829.6SYNM, SYNC, DES
5Z discGO:0300189.0LDB3, CRYAB, FLNC, DES, SYNC, SYNPO2
6cytosolGO:0058298.3FLNC, CRYAB, FHL1, TUBG1, HSPB2, DES

Biological processes related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00693610.0MYOT, DES, CRYAB
2sarcomere organizationGO:0452149.7LDB3, TCAP, XIRP1

Molecular functions related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00830710.0TCAP, MYOT, SYNM
2cytoskeletal protein bindingGO:0080929.9FLNC, DES, LDB3
3structural constituent of cytoskeletonGO:0052009.9SYNM, DES, TUBG1
4muscle alpha-actinin bindingGO:0513719.8LDB3, SYNPO2
5actin bindingGO:0037799.6XIRP1, FLNC, SYNPO2, MYOT, GSN
6protein bindingGO:0055158.1GSN, HSPB2, TUBG1, FHL1, CRYAB, FLNC

Products for genes affiliated with Myofibrillar Myopathy

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Sources for Myofibrillar Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet