MCID: MYF003
MIFTS: 40

Myofibrillar Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Myofibrillar Myopathy

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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:22 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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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 50Orphanet, 63UMLS, 46Novoseek, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
myofibrillar myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

myofibrillar myopathy 20 44 21 23 22 50 63
myotilinopathy 44 21 23
filaminopathy 44 21
desminopathy 44 21
zaspopathy 44 21
alpha beta crystallinopathy 44
protein surplus myopathy 44
myopathy, desmin storage 63
desmin storage myopathy 44
desmin related myopathy 44
desmin-related myopathy 46
myofibrillar myopathies 22


External Ids:

ICD10 via Orphanet27 G71.8

Related Diseases for Myofibrillar Myopathy

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Myofibrillar Myopathy:



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

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Drugs & Therapeutics for Myofibrillar Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
21GeneTests, 23GTR
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Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy21 23 MYOT
2 Desminopathy21 DES
3 Myotilinopathy21 23 MYOT
4 Filaminopathy21 FLNC
5 Zaspopathy21 LDB3

Anatomical Context for Myofibrillar Myopathy

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Animal Models for Myofibrillar Myopathy or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0BAG3, FHL1
2MP:00053787.7BAG3, FHL1, DNAJB6, LDB3

Publications for Myofibrillar Myopathy

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Sources:
53PubMed
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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

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1 National Center for Biotechnology Information (Clinvar)
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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

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Myofibrillar Myopathy

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GO Terms for genes affiliated with Myofibrillar Myopathy

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17Gene Ontology
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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

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Sources for Myofibrillar Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet