MCID: MYF003
MIFTS: 42

Myofibrillar Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Myofibrillar Myopathy

About this section

Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 23 48 24 25 68
Myofibrillar Myopathies 25 27
Myotilinopathy 48 68
Myopathy, Myofibrillar, Desmin-Related 68
Alpha Beta Crystallinopathy 48
Protein Surplus Myopathy 48
 
Myopathy, Desmin Storage 68
Desmin Related Myopathy 48
Desmin Storage Myopathy 48
Filaminopathy 48
Desminopathy 48
Zaspopathy 48

Characteristics:

GeneReviews:

23
Penetrance: data are insufficient to draw conclusions about penetrance...


Classifications:



Summaries for Myofibrillar Myopathy

About this section
NIH Rare Diseases:48 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 myofibrillar myopathies, is related to myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related and myopathy, spheroid body, and has symptoms including facial paresis An important gene associated with Myofibrillar Myopathy is MYOT (Myotilin), and among its related pathways are Dilated cardiomyopathy and Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are cardiovascular system and growth/size/body region.

Genetics Home Reference:25 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 for NBK1499

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
Myofibrillar Myopathy 7 Dnajb6-Related Myofibrillar Myopathy
Fhl1-Related Myofibrillar Myopathy Myopathy, Myofibrillar, 8

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related32.1CRYAB, DMD, FLNC, LDB3, MYOT
2myopathy, spheroid body32.0FLNC, MYOT
3myofibrillar myopathy 712.2
4dnajb6-related myofibrillar myopathy11.9
5fhl1-related myofibrillar myopathy11.9
6autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome11.9
7myopathy, myofibrillar, 211.8
8myopathy, myofibrillar, 111.8
9myopathy, myofibrillar, 611.7
10myopathy, myofibrillar, 311.7
11myopathy, myofibrillar, 411.7
12myopathy, myofibrillar, 511.6
13myopathy, proximal, with early respiratory muscle involvement11.0
14late-onset distal myopathy, markesbery-griggs type11.0
15arrhythmogenic right ventricular dysplasia 110.9
16myopathy, myofibrillar, 810.9
17hereditary proximal myopathy with early respiratory failure10.9
18myopathy10.7
19cardiomyopathy10.2
20polyposis syndrome, hereditary mixed, 210.2LDB3, MYOT
21chronic atrial and intestinal dysrhythmia10.2DNAJB6, MYOT
22facio digito genital syndrome recessive form10.2DES, DMD
23dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.2DES, DMD
24autosomal recessive nonsyndromic deafness 4710.2DMD, LDB3
25dentinogenesis imperfecta, shields type iii10.1DNAJB6, MYOT
26cardiomyopathy, dilated, 1aa, with or without lvnc10.1DMD, LDB3
27hypospadias 3, autosomal10.1DNAJB6, MYOT
28cardiomyopathy, familial restrictive, 310.1DMD, LDB3
29lipodystrophy, familial partial, 210.1DMD, LDB3
30inclusion body myositis10.1
31arrhythmogenic right ventricular cardiomyopathy10.1
32myositis10.1
33short-rib thoracic dysplasia 8 with or without polydactyly10.1DES, DNAJB6, MYOT
34autosomal recessive limb-girdle muscular dystrophy type 2f10.0DNAJB6, FLNC, MYOT
35inflammatory bowel disease 1410.0DMD, FLNC, MYOT
36fibular hemimelia, bilateral10.0LDB3, TTN
37myopathy, early-onset, with fatal cardiomyopathy10.0LDB3, MYOT, TTN
38fibular hemimelia, unilateral10.0LDB3, TTN
39congenital absence of upper arm and forearm with hand present, bilateral10.0LDB3, TTN
40epilepsy, generalized, with febrile seizures plus, type 110.0DES, MYOT
41restrictive cardiomyopathy10.0
42spinocerebellar ataxia 1110.0MYOT, TTN
43myopathy, distal, with anterior tibial onset9.9DMD, MYOT, TTN
44ostertagiasis9.9CRYAB, DES, TTN
45prosthetic joint infection9.9DMD, FHL1
46autosomal recessive limb-girdle muscular dystrophy type 2h9.9DMD, TTN
47adams-oliver syndrome 29.9DES, DMD, TTN
48phototoxic dermatitis9.9DES, DMD, TTN
49autoimmune thyroid disease 29.8DNAJB6, LDB3, MYOT, TTN
50parametrium malignant neoplasm9.8DES, DMD, FHL1

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



Diseases related to myofibrillar myopathy

Symptoms & Phenotypes for Myofibrillar Myopathy

About this section

UMLS symptoms related to Myofibrillar Myopathy:


facial paresis

MGI Mouse Phenotypes related to Myofibrillar Myopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9BAG3, DES, DMD, FHL1, FLNC, LDB3
2MP:00053787.6BAG3, DMD, DNAJB6, FHL1, FLNC, LDB3
3MP:00053867.4BAG3, CRYAB, DES, DMD, FHL1, FLNC
4MP:00053696.6BAG3, CRYAB, DES, DMD, FHL1, FLNC

Drugs & Therapeutics for Myofibrillar Myopathy

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Mechanisms of Age-Related Muscle LossCompletedNCT03113279
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Myopathy27 24 MYOT

Anatomical Context for Myofibrillar Myopathy

About this section

MalaCards organs/tissues related to Myofibrillar Myopathy:

36
Skeletal muscle, Heart

Publications for Myofibrillar Myopathy

About this section

Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. (28436997)
2017
2
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. (27904835)
2017
3
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. (27633507)
2016
4
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. (27546599)
2016
5
Mitochondrial dysfunction in myofibrillar myopathy. (27618136)
2016
6
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. (27443559)
2016
7
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. (26828629)
2016
8
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. (26969713)
2016
9
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. (25866181)
2015
10
BAG3 myofibrillar myopathy presenting with cardiomyopathy. (25728519)
2015
11
Severe congenital actin related myopathy with myofibrillar myopathy features. (25913210)
2015
12
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. (26234161)
2015
13
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
14
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. (25208129)
2014
15
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. (25273835)
2014
16
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
17
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. (25541946)
2014
18
Novel recessive myotilin mutation causes severe myofibrillar myopathy. (24928145)
2014
19
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
20
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. (23425003)
2013
21
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
22
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
23
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. (22395865)
2012
24
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. (22706277)
2012
25
BAG3-related myofibrillar myopathy in a Chinese family. (21361913)
2012
26
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
27
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
28
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
29
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
30
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (22106715)
2011
31
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
32
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. (22094483)
2011
33
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. (21481933)
2011
34
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. (21130652)
2011
35
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
36
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
37
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
38
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
39
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. (19050726)
2009
40
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. (19253808)
2009
41
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
42
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
2009
43
Molecular pathology of myofibrillar myopathies. (18764962)
2008
44
Myofibrillar myopathies. (18769253)
2008
45
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
46
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
2008
47
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes. (17005401)
2006
48
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. (15978589)
2005
49
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
50
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. (15912881)
2005

Variations for Myofibrillar Myopathy

About this section

Clinvar genetic disease variations for Myofibrillar Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DESNM_ 001927.3(DES): c.1285C> T (p.Arg429Ter)SNVPathogenic/ Likely pathogenicrs150974575GRCh38Chr 2, 219423817: 219423817
2LDB3NM_ 001080114.1(LDB3): c.728C> T (p.Pro243Leu)SNVPathogenicrs775180716GRCh38Chr 10, 86692544: 86692544
3LDB3NM_ 001080114.1(LDB3): c.494C> T (p.Ala165Val)SNVPathogenicrs121908334GRCh37Chr 10, 88446975: 88446975
4MYOTNM_ 006790.2(MYOT): c.179C> G (p.Ser60Cys)SNVPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519
5DESNM_ 001927.3(DES): c.1069G> C (p.Ala357Pro)SNVPathogenicrs58898021GRCh37Chr 2, 220286107: 220286107
6DESNM_ 001927.3(DES): c.1346A> C (p.Lys449Thr)SNVPathogenic/ Likely pathogenicrs267607485GRCh37Chr 2, 220290442: 220290442
7DESNM_ 001927.3(DES): c.46C> T (p.Arg16Cys)SNVPathogenicrs60798368GRCh37Chr 2, 220283230: 220283230
8DESNM_ 001927.3(DES): c.735+3A> GSNVPathogenicrs267607483GRCh37Chr 2, 220285071: 220285071

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0DES, DMD, TTN
29.0DES, DMD, TTN

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
1cardiac myofibrilGO:009751210.5CRYAB, DES
2costamereGO:004303410.4DMD, FLNC
3I bandGO:003167410.0CRYAB, TTN
4M bandGO:003143010.0CRYAB, TTN
5sarcolemmaGO:00423839.5DES, DMD, FLNC, MYOT
6cytoskeletonGO:00058569.4DES, DMD, FLNC, LDB3, MYOT
7cytosolGO:00058297.0BAG3, CRYAB, DES, DMD, DNAJB6, FHL1
8Z discGO:00300186.6BAG3, CRYAB, DES, DMD, DNAJB6, FLNC
9cytoplasmGO:00057376.6BAG3, CRYAB, DES, DMD, DNAJB6, FHL1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.3DES, DNAJB6
2muscle fiber developmentGO:004874710.2DMD, FLNC
3cardiac muscle contractionGO:006004810.0DMD, TTN
4muscle filament slidingGO:00300499.6DES, DMD, TTN
5protein foldingGO:00064579.6BAG3, CRYAB, DNAJB6
6sarcomere organizationGO:00452149.5LDB3, TTN
7regulation of cellular response to heatGO:19000349.5BAG3, CRYAB, DNAJB6
8muscle contractionGO:00069369.4CRYAB, DES, MYOT, TTN
9muscle organ developmentGO:00075179.3CRYAB, DMD, FHL1

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.4LDB3, TTN
2cytoskeletal protein bindingGO:00080929.8CRYAB, DES, FLNC, LDB3
3structural constituent of muscleGO:00083079.0DMD, MYOT, TTN
4protein bindingGO:00055156.2BAG3, CRYAB, DES, DMD, DNAJB6, FHL1

Sources for Myofibrillar Myopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet