MCID: MYF003
MIFTS: 43

Myofibrillar Myopathy malady

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

Aliases & Classifications for Myofibrillar Myopathy

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Sources:
22GeneTests, 45NIH Rare Diseases, 65UMLS, 21GeneReviews, 23Genetics Home Reference, 51Orphanet, 24GTR, 47Novoseek, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 21 45 22 23 65
Desminopathy 45 22 51
Desmin Storage Myopathy 45 22
Myofibrillar Myopathies 23 24
Desmin Related Myopathy 45 22
Myotilinopathy 45 65
Filaminopathy 45 22
Zaspopathy 45 22
 
Myopathy, Myofibrillar, Desmin-Related 65
Desmin-Related Myofibrillar Myopathy 51
Alpha Beta Crystallinopathy 45
Myopathy, Myofibrillar, 1 22
Myopathy, Myofibrillar, 4 22
Protein Surplus Myopathy 45
Myopathy, Desmin Storage 65
Desmin-Related Myopathy 47


Classifications:



External Ids:

Orphanet51 98909
ICD10 via Orphanet28 G71.8

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 desminopathy, is related to myopathy, spheroid body and muscular dystrophy, rigid spine, 1. An important gene associated with Myofibrillar Myopathy is DES (Desmin). Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are respiratory system 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.

Wikipedia:68 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

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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
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 59)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, spheroid body31.0DES, MYOT
2muscular dystrophy, rigid spine, 130.8DMD, SEPN1
3muscular dystrophy, limb-girdle, type 1a30.5FLNC, MYOT
4muscular dystrophy30.2DES, DMD, MYOT
5limb-girdle muscular dystrophy29.9DES, DMD, SEPN1
6myopathy11.1
7desmin-related myopathy with mallory body-like inclusions10.6
8myopathy, myofibrillar, 210.6
9cardiomyopathy10.6
10myopathy, myofibrillar, 110.4
11myopathy, myofibrillar, 310.4
12arrhythmogenic right ventricular cardiomyopathy10.4
13inclusion body myositis10.4
14myositis10.4
15dnajb6-related myofibrillar myopathy10.4
16fhl1-related myofibrillar myopathy10.4
17fatal infantile hypertonic myofibrillar myopathy10.4
18muscle filaminopathy10.3
19distal myotilinopathy10.3
20myopathy, myofibrillar, 510.3
21myopathy, myofibrillar, 610.3
22restrictive cardiomyopathy10.3
23hereditary proximal myopathy with early respiratory failure10.3
24late-onset distal myopathy, markesbery-griggs type10.3
25cardiomyopathy, dilated, 1a10.2
26nemaline myopathy 8, autosomal recessive10.2
27cerebellar ataxia10.2
28myopathy, myofibrillar, 410.2
29myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.2
30arrhythmogenic right ventricular dysplasia 110.2
31scapuloperoneal myopathy, x-linked dominant10.2
32myopathy, proximal, with early respiratory muscle involvement10.2
33cataract10.2
34respiratory failure10.2
35ataxia10.2
36d ercole syndrome10.1DES, DMD
37cardiomyopathy, hypertrophic, 2510.1DMD, MYOT
38distal myopathy with posterior leg and anterior hand involvement10.1
39reductional transverse limb defects10.1DES, DMD
40neuronitis10.1
41muscular dystrophy, limb-girdle, type 2b10.1DMD, MYOT
42nemaline myopathy10.1
43cerebral-cerebellar-coloboma syndrome, x-linked10.1DES, DMD
44cartilage disease10.1DMD, MYOT
45deafness, autosomal dominant 20/2610.0DMD, SEPN1
46congenital fibrosis of the extraocular muscles10.0DMD, SEPN1
47acute pericementitis10.0DES, DMD, MYOT
48atrophic glossitis10.0CRYAB, DES
49muscular dystrophy, congenital9.9DMD, SEPN1
50bethlem myopathy 19.9DMD, SEPN1

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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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 24 MYOT
2 Desminopathy22 DES
3 Filaminopathy22 FLNC
4 Zaspopathy22 LDB3

Anatomical Context for Myofibrillar Myopathy

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MalaCards organs/tissues related to Myofibrillar Myopathy:

33
Skeletal muscle, Heart

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:00053888.1DMD, FLNC, LDB3, SEPN1
2MP:00053857.8DES, DMD, FLNC, LDB3, SYNC
3MP:00053867.4CRYAB, DES, DMD, FLNC, LDB3, SEPN1
4MP:00053696.9CRYAB, DES, DMD, FLNC, LDB3, SEPN1

Publications for Myofibrillar Myopathy

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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 61)
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
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
8
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. (25541946)
2014
9
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. (25273835)
2014
10
Novel recessive myotilin mutation causes severe myofibrillar myopathy. (24928145)
2014
11
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
12
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
13
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
14
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
15
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
16
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
17
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
18
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
19
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
20
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
21
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
22
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
23
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
24
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
25
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
26
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
27
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
28
Myofibrillar myopathies. (18769253)
2008
29
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
30
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
31
Molecular pathology of myofibrillar myopathies. (18764962)
2008
32
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
33
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
34
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
35
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
2004
36
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
37
Mutations in myotilin cause myofibrillar myopathy. (15111675)
2004
38
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (14711882)
2004
39
Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy. (15159477)
2004
40
Myofibrillar myopathies]. (14593638)
2003
41
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. (12669240)
2003
42
Mitochondrial dysfunction in myofibrillar myopathy. (12581339)
2003
43
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
44
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. (11310634)
2001
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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Clinvar genetic disease variations for Myofibrillar Myopathy:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_001927.3(DES): c.1009G> C (p.Ala337Pro)single nucleotide variantPathogenicrs59962885GRCh37Chr 2, 220285661: 220285661
2DESNM_001927.3(DES): c.1078G> C (p.Ala360Pro)single nucleotide variantPathogenicrs121913000GRCh37Chr 2, 220286116: 220286116
3DESNM_001927.3(DES): c.1178A> T (p.Asn393Ile)single nucleotide variantPathogenicrs121913001GRCh37Chr 2, 220286216: 220286216
4DESNM_001927.3(DES): c.517_537del21 (p.Ala174_Arg180del)deletionPathogenicrs60538473GRCh37Chr 2, 220283701: 220283721
5DESNM_001927.3(DES): c.1034T> C (p.Leu345Pro)single nucleotide variantPathogenicrs57639980GRCh37Chr 2, 220286072: 220286072
6DESNM_001927.3(DES): c.1216C> T (p.Arg406Trp)single nucleotide variantPathogenicrs121913003GRCh37Chr 2, 220286254: 220286254
7DESDES, IVS3, A-G, +3single nucleotide variantPathogenic
8DESDES, IVS2, G-A, -1single nucleotide variantPathogenic
9DESNM_001927.3(DES): c.1154T> C (p.Leu385Pro)single nucleotide variantPathogenicrs57955682GRCh37Chr 2, 220286192: 220286192
10DESNM_001927.3(DES): c.1166A> C (p.Gln389Pro)single nucleotide variantPathogenicrs121913004GRCh37Chr 2, 220286204: 220286204
11DESDES, GLU359-ALA360-SER361 DELdeletionPathogenic
12DESNM_001927.3(DES): c.1096_1098delAAC (p.Asn366del)deletionPathogenicrs58687088GRCh37Chr 2, 220286134: 220286136
13DESDES, 3-BP DEL, 720GAAinsertionPathogenic
14DESNM_001927.3(DES): c.1325C> T (p.Thr442Ile)single nucleotide variantPathogenicrs121913005GRCh37Chr 2, 220290421: 220290421
15DESNM_001927.3(DES): c.639+3_639+4delGAdeletionPathogenicrs730880289GRCh38Chr 2, 219420158: 219420159
16DESNM_001927.3(DES): c.1255C> T (p.Pro419Ser)single nucleotide variantPathogenicrs62635763GRCh37Chr 2, 220288509: 220288509
17DESNM_001927.3(DES): c.38C> T (p.Ser13Phe)single nucleotide variantPathogenicrs62636495GRCh37Chr 2, 220283222: 220283222
18MYOTNM_006790.2(MYOT): c.164C> T (p.Ser55Phe)single nucleotide variantPathogenicrs121908457GRCh37Chr 5, 137206504: 137206504
19MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
20MYOTNM_006790.2(MYOT): c.179C> T (p.Ser60Phe)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
21MYOTNM_006790.2(MYOT): c.284G> T (p.Ser95Ile)single nucleotide variantPathogenicrs121908460GRCh37Chr 5, 137206624: 137206624
22DESNM_001927.3(DES): c.1024A> G (p.Asn342Asp)single nucleotide variantPathogenicrs267607482GRCh37Chr 2, 220286062: 220286062
23DESNM_001927.3(DES): c.735+3A> Gsingle nucleotide variantPathogenicrs267607483GRCh37Chr 2, 220285071: 220285071

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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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
1contractile fiberGO:00432929.9CRYAB, DES
2neuromuscular junctionGO:00315949.8DES, SYNC
3costamereGO:00430349.1DMD, FLNC
4cytoskeletonGO:00058568.4DES, DMD, FLNC, LDB3
5sarcolemmaGO:00423837.5DES, DMD, FLNC, MYOT, SYNC
6Z discGO:00300186.8CRYAB, DES, DMD, FLNC, LDB3, MYOT

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.4CRYAB, DMD
2muscle contractionGO:00069369.4CRYAB, DES, MYOT
3muscle filament slidingGO:00300499.3DES, DMD
4muscle fiber developmentGO:00487479.1DMD, FLNC

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.6DMD, MYOT
2structural constituent of cytoskeletonGO:00052009.3DES, DMD
3actin bindingGO:00037798.7DMD, FLNC, MYOT
4cytoskeletal protein bindingGO:00080928.6CRYAB, DES, FLNC, LDB3

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