MCID: MYF003
MIFTS: 48

Myofibrillar Myopathy malady

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

Aliases & Classifications for Myofibrillar Myopathy

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Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 21 45 22 23 65
Myofibrillar Myopathies 23 24
Myotilinopathy 45 65
Myopathy, Myofibrillar, Desmin-Related 65
Alpha Beta Crystallinopathy 45
Protein Surplus Myopathy 45
 
Myopathy, Desmin Storage 65
Desmin Related Myopathy 45
Desmin Storage Myopathy 45
Filaminopathy 45
Desminopathy 45
Zaspopathy 45

Classifications:



External Ids:

UMLS65 C2678065, C1832370, C2931110 C1836607, more

Summaries for Myofibrillar Myopathy

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NIH Rare Diseases:45 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 myofibrillar myopathy 7 and myopathy, myofibrillar, 1, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways are MSP-RON Signaling and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, heart and breast, and related mouse phenotypes are behavior/neurological and cardiovascular system.

Genetics Home Reference:23 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 NBK1499

Related Diseases for Myofibrillar Myopathy

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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

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy 733.8FHL1, MYOT
2myopathy, myofibrillar, 133.1CRYAB, DES, LDB3, MYOT
3myopathy, myofibrillar, 332.5FLNC, MYOT, TCAP, TTN
4myopathy, spheroid body30.8FLNC, LDB3, MYOT, TTN
5desmin-related myopathy with mallory body-like inclusions12.3
6dnajb6-related myofibrillar myopathy12.0
7fhl1-related myofibrillar myopathy12.0
8fatal infantile hypertonic myofibrillar myopathy12.0
9distal myotilinopathy11.9
10muscle filaminopathy11.9
11myopathy, myofibrillar, 211.7
12myopathy, myofibrillar, 611.6
13myopathy, myofibrillar, 511.2
14myopathy, myofibrillar, 411.2
15hereditary proximal myopathy with early respiratory failure11.2
16late-onset distal myopathy, markesbery-griggs type11.2
17edict syndrome11.0
18myopathy, proximal, with early respiratory muscle involvement11.0
19myopathy10.8
20schizophrenia 1610.6DES, DNAJB6
21myopathy, distal, 410.5DES, FLNC, MYOT
22familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.5LDB3, TTN
23minicore myopathy with external ophthalmoplegia10.5DES, FLNC, MYOT
24frontotemporal dementia, right temporal atrophy variant10.5LDB3, TTN
25cardiomyopathy, dilated, 1c, with or without lvnc10.5LDB3, MYOT
26mitf-related melanoma and renal cell carcinoma predisposition syndrome10.4LDB3, TTN
27limb-girdle muscular dystrophy10.4DES, MYOT, TTN
28cardiomyopathy10.3
29lmna-related muscle diseases10.3TCAP, TTN
30cardiomyopathy, hypertrophic, 2510.3MYOT, TCAP, TTN
31muscular dystrophy, limb-girdle, type 2b10.3MYOT, TCAP, TTN
32cartilage disease10.3MYOT, TCAP, TTN
33bardet-biedl syndrome 1110.2TCAP, TTN
34glycogen storage disease 0, muscle10.2TCAP, TTN
35arrhythmogenic right ventricular cardiomyopathy10.2
36inclusion body myositis10.2
37myositis10.2
38restrictive cardiomyopathy10.1
39myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.0
40arrhythmogenic right ventricular dysplasia 110.0
41cornelia de lange syndrome10.0DNAJB6, MYOT, TCAP
42cerebellar ataxia9.9
43cataract9.9
44respiratory failure9.9
45intestinal pseudo-obstruction9.9
46muscular dystrophy9.9
47ataxia9.9
48cardiomyopathy, dilated, 1l9.9TCAP, TTN
49dermatosis papulosa nigra9.9DES, MYOT, SYNC, TTN
50cataract 16, multiple types9.8ACTA1, CRYAB, DES, FLNC, LDB3, MYOT

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



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

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UMLS symptoms related to Myofibrillar Myopathy:


facial paresis

Drugs & Therapeutics for Myofibrillar Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

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Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy22 MYOT

Anatomical Context for Myofibrillar Myopathy

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MalaCards organs/tissues related to Myofibrillar Myopathy:

33
Skeletal muscle, Heart, Breast, Brain, Thyroid, T cells, Endothelial

Animal Models for Myofibrillar Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9ACTA1, BAG3, CRYAB, DES, FHL1, FLNC
2MP:00053857.4BAG3, DES, FHL1, FLNC, IL1B, LDB3
3MP:00053697.3ACTA1, BAG3, CRYAB, DES, FHL1, FLNC
4MP:00053766.2ACTA1, BAG3, DES, FHL1, IL1B, LDB3

Publications for Myofibrillar Myopathy

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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
BAG3 myofibrillar myopathy presenting with cardiomyopathy. (25728519)
2015
2
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. (26234161)
2015
3
Severe congenital actin related myopathy with myofibrillar myopathy features. (25913210)
2015
4
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. (25866181)
2015
5
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
6
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
7
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. (25208129)
2014
8
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
9
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. (25541946)
2014
10
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. (25273835)
2014
11
Novel recessive myotilin mutation causes severe myofibrillar myopathy. (24928145)
2014
12
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
13
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
14
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
15
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
16
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
17
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
18
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
19
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
20
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
21
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
22
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
23
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
24
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
25
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
26
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
27
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
28
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
29
Myofibrillar myopathies. (18769253)
2008
30
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
31
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
32
Molecular pathology of myofibrillar myopathies. (18764962)
2008
33
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
34
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
35
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
36
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
37
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
38
Mutations in myotilin cause myofibrillar myopathy. (15111675)
2004
39
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
40
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
41
Myofibrillar myopathies]. (14593638)
2003
42
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. (12669240)
2003
43
Mitochondrial dysfunction in myofibrillar myopathy. (12581339)
2003
44
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
45
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
46
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
1999
47
Myofibrillar myopathy. (10553983)
1999
48
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
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

Variations for Myofibrillar Myopathy

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Expression for genes affiliated with Myofibrillar Myopathy

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Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for genes affiliated with Myofibrillar Myopathy

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

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.3ACTA1, IL1B, PRKCZ
29.3ACTA1, DES, TCAP, TTN
39.2PRKCA, PRKCH, PRKCZ
4
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
5
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
6
Show member pathways
9.2PRKCA, PRKCH, PRKCZ
79.2PRKCA, PRKCH, PRKCZ
89.2PRKCA, PRKCH, PRKCZ
99.2PRKCA, PRKCH, PRKCZ
109.2PRKCA, PRKCH, PRKCZ
119.2PRKCA, PRKCH, PRKCZ
129.2PRKCA, PRKCH, PRKCZ
139.2PRKCA, PRKCH, PRKCZ
149.2IL1B, PRKCA, PRKCZ
15
Show member pathways
8.9ACTA1, PRKCA, PRKCH, PRKCZ
16
Show member pathways
8.9ACTA1, PRKCA, PRKCH, PRKCZ
17
Show member pathways
8.9IL1B, PRKCA, PRKCH, PRKCZ
188.7FLNC, IL1B, PRKCA, PRKCH, PRKCZ
19
Show member pathways
8.5ACTA1, IL1B, PRKCA, PRKCH, PRKCZ

GO Terms for genes affiliated with Myofibrillar Myopathy

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Cellular components related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.8DES, FLNC, LDB3
2intermediate filamentGO:00058829.6DES, SYNC

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:005500310.1TCAP, TTN
2sarcomerogenesisGO:004876910.1TCAP, TTN
3negative regulation of insulin receptor signaling pathwayGO:004662710.0IL1B, PRKCZ
4muscle filament slidingGO:003004910.0TCAP, TTN
5muscle contractionGO:00069369.5ACTA1, CRYAB, TTN
6platelet activationGO:00301689.1PRKCA, PRKCZ, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase C activityGO:00046979.7PRKCA, PRKCH

Sources for Myofibrillar Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet