MCID: MYF003
MIFTS: 43

Myofibrillar Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Myofibrillar Myopathy

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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 based summary: 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). Affiliated tissues include skeletal muscle and heart, and 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

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Myofibrillar Myopathy, Aliases & Descriptions:

Name: Myofibrillar Myopathy 19 42 20 22 21 62
Myotilinopathy 42 20 22 62
Myofibrillar Myopathies 21 62
Filaminopathy 42 20
Desminopathy 42 20
Zaspopathy 42 20
Alpha Beta Crystallinopathy 42
 
Protein Surplus Myopathy 42
Myopathy, Desmin-Related 62
Myopathy, Desmin Storage 62
Desmin Related Myopathy 42
Desmin Storage Myopathy 42
Desmin-Related Myopathy 44


Classifications:

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


Related Diseases for Myofibrillar Myopathy

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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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Drug clinical trials:

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Search 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 Myopathy20 22 MYOT
2 Desminopathy20 DES
3 Myotilinopathy20 22 MYOT
4 Filaminopathy20 FLNC
5 Zaspopathy20 LDB3

Anatomical Context for Myofibrillar Myopathy

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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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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0BAG3, FHL1
2MP:00053787.7BAG3, FHL1, DNAJB6, LDB3

Publications for Myofibrillar Myopathy

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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
2
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
3
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
4
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. (25273835)
2014
5
Novel recessive myotilin mutation causes severe myofibrillar myopathy. (24928145)
2014
6
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
7
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
8
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
9
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
10
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
11
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
12
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
13
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
14
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
15
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
16
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
17
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
18
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
19
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
20
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
21
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
22
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
23
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
2009
24
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. (19253808)
2009
25
Myofibrillar myopathies. (18769253)
2008
26
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
27
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
28
Molecular pathology of myofibrillar myopathies. (18764962)
2008
29
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
30
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
31
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
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
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
37
Cardiovascular manifestations of myofibrillar myopathy. (15590364)
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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Clinvar genetic disease variations for Myofibrillar Myopathy:

6
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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet