MCID: MYF003
MIFTS: 40

Myofibrillar Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myofibrillar Myopathy

About this section
Sources:
19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Myofibrillar Myopathy, Aliases & Descriptions:

Name: Myofibrillar Myopathy 19 41 20 21 60
Desminopathy 41 20 47
Myofibrillar Myopathies 21 22
Myotilinopathy 41 60
Filaminopathy 41 20
Zaspopathy 41 20
Myopathy, Myofibrillar, Desmin-Related 60
 
Desmin-Related Myofibrillar Myopathy 47
Alpha Beta Crystallinopathy 41
Protein Surplus Myopathy 41
Myopathy, Desmin Storage 60
Desmin Related Myopathy 41
Desmin-Related Myopathy 43
Desmin Storage Myopathy 41


Classifications:

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


External Ids:

Orphanet47 98909
ICD10 via Orphanet26 G71.8

Summaries for Myofibrillar Myopathy

About this section


NIH Rare Diseases:41 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 desminopathy, is related to myopathy and myopathy, spheroid body. An important gene associated with Myofibrillar Myopathy is MYOT (myotilin), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are muscle and homeostasis/metabolism.

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.

Wikipedia:63 Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the... more...

GeneReviews summary for mfm

Related Diseases for Myofibrillar Myopathy

About this section

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 3
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 2
Dnajb6-Related Myofibrillar Myopathy Fhl1-Related Myofibrillar Myopathy

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.6DES, MYOT, TCAP, LDB3, FHL1
2myopathy, spheroid body30.5MYOT, DES
3muscular dystrophy, limb-girdle, type 1a30.4MYOT, TCAP
4nemaline myopathy29.9DES, MYOT
5limb-girdle muscular dystrophy29.8TCAP, MYOT
6muscular dystrophy29.8DES, MYOT, TCAP
7muscular dystrophy, rigid spine, 110.6
8myopathy, myofibrillar, 310.4
9arrhythmogenic right ventricular cardiomyopathy10.4
10inclusion body myositis10.4
11myositis10.4
12dnajb6-related myofibrillar myopathy10.4
13fhl1-related myofibrillar myopathy10.4
14fatal infantile hypertonic myofibrillar myopathy10.4
15myopathy, myofibrillar, 110.3
16myopathy, myofibrillar, 510.3
17myopathy, myofibrillar, 210.3
18restrictive cardiomyopathy10.3
19late-onset distal myopathy, markesbery-griggs type10.3
20muscle filaminopathy10.3
21distal myotilinopathy10.3
22cardiomyopathy, dilated, 1a10.2
23myopathy, myofibrillar, 410.2
24myopathy, myofibrillar, 610.2
25scapuloperoneal myopathy, x-linked dominant10.2
26myopathy, proximal, with early respiratory muscle involvement10.2
27cerebellar ataxia10.2
28myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.2
29arrhythmogenic right ventricular dysplasia 110.2
30cataract10.2
31respiratory failure10.2
32ataxia10.2
33hereditary proximal myopathy with early respiratory failure10.2
34distal myopathy with posterior leg and anterior hand involvement10.1
35muscular dystrophy, limb-girdle, type 2g10.1MYOT, TCAP
36neuronitis10.0
37muscular dystrophy, limb-girdle, type 2b10.0MYOT, TCAP
38calpainopathy10.0TCAP, MYOT
39central core disease9.9DES, MYOT
40distal muscular dystrophy9.9DES, MYOT
41duchenne muscular dystrophy9.9TCAP, DES
42dilated cardiomyopathy9.8LDB3, TCAP, DES
43neuromuscular disease9.7DES, MYOT, TCAP
44noonan syndrome 19.7TCAP, MYOT, DES

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

Drug clinical trials:

Search ClinicalTrials for Myofibrillar Myopathy

Search NIH Clinical Center for Myofibrillar Myopathy

Genetic Tests for Myofibrillar Myopathy

About this section

Genetic tests related to Myofibrillar Myopathy:

id Genetic test Affiliating Genes
1 Myofibrillar Myopathy20 22 MYOT
2 Desminopathy20 DES
3 Filaminopathy20 FLNC
4 Zaspopathy20 LDB3

Anatomical Context for Myofibrillar Myopathy

About this section

MalaCards organs/tissues related to Myofibrillar Myopathy:

31
Skeletal muscle, Heart

Animal Models for Myofibrillar Myopathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Myofibrillar Myopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3DES, TCAP, LDB3, BAG3
2MP:00053767.9BAG3, FHL1, LDB3, TCAP, DES
3MP:00053857.8BAG3, FHL1, LDB3, TCAP, DES

Publications for Myofibrillar Myopathy

About this section

Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
BAG3 myofibrillar myopathy presenting with cardiomyopathy. (25728519)
2015
2
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. (25866181)
2015
3
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
4
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
5
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
6
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. (25273835)
2014
7
Novel recessive myotilin mutation causes severe myofibrillar myopathy. (24928145)
2014
8
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
9
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
10
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
11
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
12
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
13
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
14
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
15
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
16
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
17
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
18
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
19
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
20
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
21
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
22
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
23
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
24
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
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

About this section

Clinvar genetic disease variations for Myofibrillar Myopathy:

6
id Gene Variation 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
Search GEO for disease gene expression data for Myofibrillar Myopathy.

Pathways for genes affiliated with Myofibrillar Myopathy

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5TCAP, DES

Compounds for genes affiliated with Myofibrillar Myopathy

About this section

GO Terms for genes affiliated with Myofibrillar Myopathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.4DES, MYOT
2cytosolGO:00058298.4BAG3, FHL1, TCAP, DES
3Z discGO:00300187.3BAG3, DNAJB6, LDB3, TCAP, MYOT, DES

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

idNameGO IDScoreTop Affiliating Genes
1sarcomere organizationGO:00452149.5LDB3, TCAP
2muscle filament slidingGO:00300499.4TCAP, DES
3muscle contractionGO:00069369.4MYOT, DES
4protein foldingGO:00064579.1BAG3, DNAJB6

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.6MYOT, TCAP
2ion channel bindingGO:00443259.3FHL1, TCAP
3cytoskeletal protein bindingGO:00080929.3LDB3, DES
4chaperone bindingGO:00510879.0BAG3, DNAJB6
5protein bindingGO:00055156.8BAG3, FHL1, DNAJB6, LDB3, TCAP, MYOT

Products for genes affiliated with Myofibrillar Myopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myofibrillar Myopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet