MCID: MYF003
MIFTS: 40

Myofibrillar Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
Download this MalaCard

Summaries for Myofibrillar Myopathy

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 myotilinopathy, is related to myopathy and limb-girdle muscular dystrophy. An important gene associated with Myofibrillar Myopathy is MYOT (myotilin). Related mouse phenotypes are other and growth/size/body.

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

About this section
Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 62UMLS, 45Novoseek, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


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 62
myotilinopathy 43 20 22
filaminopathy 43 20
desminopathy 43 20
zaspopathy 43 20
alpha beta crystallinopathy 43
protein surplus myopathy 43
myopathy, desmin storage 62
desmin storage myopathy 43
desmin related myopathy 43
desmin-related myopathy 45
myofibrillar myopathies 21


External Ids:

ICD10 via Orphanet26 G71.8

Related Diseases for Myofibrillar Myopathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

About this section

Drugs & Therapeutics for Myofibrillar Myopathy

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Myofibrillar Myopathy

Search NIH Clinical Center for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

About this section
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 Myotilinopathy20 22 MYOT
4 Filaminopathy20 FLNC
5 Zaspopathy20 LDB3

Anatomical Context for Myofibrillar Myopathy

About this section

Animal Models for Myofibrillar Myopathy or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0BAG3, FHL1
2MP:00053787.7BAG3, FHL1, DNAJB6, LDB3

Publications for Myofibrillar Myopathy

About this section
Sources:
52PubMed
See all sources

Articles related to Myofibrillar Myopathy:

(show all 50)
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
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
5
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
6
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
7
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
8
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
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
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
12
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
13
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
14
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
15
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
16
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. (21481933)
2011
17
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
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
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
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
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
31
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. (15912881)
2005
32
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
33
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
34
Mutations in myotilin cause myofibrillar myopathy. (15111675)
2004
35
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
36
Cardiovascular manifestations of myofibrillar myopathy. (15590364)
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
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. (11310634)
2001
43
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
44
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
1999
45
Myofibrillar myopathy. (10553983)
1999
46
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
47
Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. (9258254)
1997
48
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. (8627347)
1996
49
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. (8627346)
1996
50
Myofibrillar Myopathy (20301672)
1993

Variations for Myofibrillar Myopathy

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Myofibrillar Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYOTNM_006790.2(MYOT): c.164C> T (p.Ser55Phe)single nucleotide variantPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
2MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
3MYOTNM_006790.2(MYOT): c.179C> T (p.Ser60Phe)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
4MYOTNM_006790.2(MYOT): c.284G> T (p.Ser95Ile)single nucleotide variantPathogenicrs121908460GRCh37Chr 5, 137206624: 137206624

Expression for genes affiliated with Myofibrillar Myopathy

About this section
Sources:
2BioGPS, 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

About this section

Compounds for genes affiliated with Myofibrillar Myopathy

About this section

GO Terms for genes affiliated with Myofibrillar Myopathy

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300188.4BAG3, DNAJB6, LDB3, MYOT

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

idNameGO IDScoreTop Affiliating Genes
1protein foldingGO:0064579.3BAG3, DNAJB6

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

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.0BAG3, DNAJB6
2protein bindingGO:0055157.5BAG3, FHL1, DNAJB6, LDB3, MYOT

Products for genes affiliated with Myofibrillar Myopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myofibrillar Myopathy

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet