MCID: MYF003
MIFTS: 47

Myofibrillar Myopathy malady

Neuronal diseases category

Summaries for Myofibrillar Myopathy

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42NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 myopathy and spheroid body myopathy. 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 skeletal muscle and heart, 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

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 60UMLS, 44Novoseek, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
myofibrillar myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

myofibrillar myopathy 19 42 20 22 21 48 60
filaminopathy 42 20
desminopathy 42 20
alpha beta crystallinopathy 42
myopathy, desmin storage 60
desmin related myopathy 42
desmin storage myopathy 42
desmin-related myopathy 44
myofibrillar myopathies 21


External Ids:

ICD10 via Orphanet26 G71.8

Related Diseases for Myofibrillar Myopathy

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17GeneCards, 18GeneDecks
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Diseases in the Myopathy, Myofibrillar, 1 family:

myofibrillar myopathy Bag3-Related Myofibrillar Myopathy
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy
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 44)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.4CRYAB, SYNC, GSN, LDB3, TCAP, BLZF1
2spheroid body myopathy30.5MYOT, DES
3limb-girdle muscular dystrophy, type 1a30.2TCAP, MYOT, FLNC
4cataract30.1CRYAB, HSPB2
5muscular dystrophy30.1MYOT, TCAP, SYNC, DES, FLNC
6nemaline myopathy29.9MYOT, DES
7limb-girdle muscular dystrophy29.9TCAP, MYOT, FLNC
8muscular dystrophy, rigid spine, 110.4
9inclusion body myositis10.3
10myositis10.3
11bag3-related myofibrillar myopathy10.3
12myopathy, myofibrillar, 110.3
13myopathy, myofibrillar, 310.3
14hereditary myopathy with early respiratory failure10.3
15dnajb6-related myofibrillar myopathy10.3
16fhl1-related myofibrillar myopathy10.3
17myopathy, myofibrillar, 210.3
18myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.3
19rigid spine syndrome10.2
20cardiomyopathy, dilated, 1a10.2
21cerebellar ataxia10.1
22respiratory failure10.1
23restrictive cardiomyopathy10.1
24myopathy, myofibrillar, 410.1
25arrhythmogenic right ventricular dysplasia 110.1
26distal myopathy 410.0
27myopathy, myofibrillar, 510.0
28neuropathy10.0MYOT
29alexander disease10.0CRYAB, DES
30myotilinopathy10.0MYOT
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
37congenital structural myopathy10.0
38noonan syndrome10.0TCAP, MYOT, CRYAB, DES, FLNC
39neuromuscular disease10.0CRYAB, DES, MYOT, TCAP, SYNC
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

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



Diseases related to myofibrillar myopathy

Clinical Features for Myofibrillar Myopathy

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Drugs & Therapeutics for Myofibrillar Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Myofibrillar Myopathy:

32
Skeletal muscle, Heart

Animal Models for Myofibrillar Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5XIRP1, FHL1, FLNC, DES, SYNC, BAG3
2MP:00053698.4LDB3, HSPB2, XIRP1, CRYAB, FLNC, DES

Publications for Myofibrillar Myopathy

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Sources:
50PubMed
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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
2
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
3
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
4
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (24268659)
2013
5
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
6
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
7
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
8
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
9
BAG3-related myofibrillar myopathy in a Chinese family. (21361913)
2012
10
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. (22395865)
2012
11
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
2011
12
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
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
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
19
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
20
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
21
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
2009
22
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. (19253808)
2009
23
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. (19050726)
2009
24
Myofibrillar myopathies. (18769253)
2008
25
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
26
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
27
Molecular pathology of myofibrillar myopathies. (18764962)
2008
28
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
29
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
30
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. (16288872)
2005
31
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
32
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. (15912881)
2005
33
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
34
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
35
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
36
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
37
Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. (15198127)
2004
38
Myofibrillar myopathies]. (14593638)
2003
39
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. (12669240)
2003
40
Mitochondrial dysfunction in myofibrillar myopathy. (12581339)
2003
41
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
42
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature. (12365725)
2002
43
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. (11310634)
2001
44
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
45
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
1999
46
Myofibrillar myopathy. (10553983)
1999
47
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
48
Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. (9258254)
1997
49
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. (8627347)
1996
50
Myofibrillar Myopathy (20301672)
1993

Genetic Variations for Myofibrillar Myopathy

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Expression for genes affiliated with Myofibrillar Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myofibrillar Myopathy

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Pathways for genes affiliated with Myofibrillar Myopathy

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12EMD Millipore, 4Cell Signaling Technology
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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

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Myofibrillar Myopathy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1cadmium44 2411.1GSN, CRYAB, HSPB2
2digitonin4410.0GSN, CLU
3methionine4410.0CRYAB, DES, MAT1A, GSN
4dihydrotestosterone44 28 11 2412.9GSN, CLU, DES
5nacl449.8BLZF1, DES, TUBG1, HSPB2
6polyacrylamide449.7HSPB2, CRYAB, DES, BLZF1, GSN
7actinomycin d449.7CRYAB, DES, BLZF1, CLU
8superoxide44 2410.7HSPB2, CRYAB, BLZF1, CLU, GSN
9h2o2449.6CLU, BLZF1, DES, CRYAB, HSPB2
10steroid449.6CRYAB, DES, BLZF1, CLU, GSN
11lysine449.5GSN, BLZF1, DES, CRYAB, TUBG1, HSPB2
12atp44 2810.4TUBG1, FHL1, MAT1A, BLZF1, CLU, GSN
13tyrosine448.7HSPB2, TUBG1, DES, MAT1A, BLZF1, CLU

GO Terms for genes affiliated with Myofibrillar Myopathy

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet