MCID: MYF003
MIFTS: 39

Myofibrillar Myopathy malady

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

Aliases & Classifications for Myofibrillar Myopathy

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Aliases & Descriptions for Myofibrillar Myopathy:

Name: Myofibrillar Myopathy 22 46 23 24 66
Myofibrillar Myopathies 24 25
Myotilinopathy 46 66
Myopathy, Myofibrillar, Desmin-Related 66
Alpha Beta Crystallinopathy 46
Myopathy, Desmin Storage 66
 
Protein Surplus Myopathy 46
Desmin Storage Myopathy 46
Desmin Related Myopathy 46
Filaminopathy 46
Desminopathy 46
Zaspopathy 46

Classifications:



Summaries for Myofibrillar Myopathy

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NIH Rare Diseases:46 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, 1 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 is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are respiratory system and muscle.

Genetics Home Reference:24 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 NBK1499

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
Myofibrillar Myopathy 7 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 40)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, 132.1DES, LDB3, MYOT
2myopathy, spheroid body30.6LDB3, MYOT
3myofibrillar myopathy 712.1
4dnajb6-related myofibrillar myopathy12.0
5fhl1-related myofibrillar myopathy12.0
6myopathy, myofibrillar, 211.7
7myopathy, myofibrillar, 611.7
8myopathy, myofibrillar, 311.5
9myopathy, myofibrillar, 411.4
10myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related11.4
11myopathy, myofibrillar, 511.2
12myopathy, proximal, with early respiratory muscle involvement11.2
13myopathy10.9
14cardiomyopathy10.3
15inclusion body myositis10.2
16arrhythmogenic right ventricular cardiomyopathy10.2
17myositis10.2
18restrictive cardiomyopathy10.1
19d ercole syndrome10.0DES, DMD
20arrhythmogenic right ventricular dysplasia 110.0
21cardiomyopathy, dilated, 1c, with or without lvnc10.0LDB3, MYOT
22cerebellar ataxia9.9
23cataract9.9
24respiratory failure9.9
25intestinal pseudo-obstruction9.9
26muscular dystrophy9.9
27ataxia9.9
28occupational dermatitis9.9DES, DMD
29usher syndrome9.9DES, DMD
30classic variant of chromophobe renal cell carcinoma9.8DMD, MYOT
31cornelia de lange syndrome9.6DMD, LDB3, MYOT
32adams-oliver syndrome 29.6DES, DMD
33myopathy, distal, 49.5DMD, FLNC, MYOT
34ectodermal dysplasia9.4DES, DMD, LDB3
35epilepsy, generalized, with febrile seizures plus, type 19.1DES, DMD, FLNC, MYOT
36cataract 16, multiple types9.1DMD, FLNC, LDB3, MYOT
37longitudinal vaginal septum8.8BAG3, DES, DMD, LDB3
38cardiovascular disease risk factor )8.8BAG3, DES, DMD, LDB3
39autoimmune thyroid disease 28.4BAG3, DES, FLNC, LDB3, MYOT
40myostatin-related muscle hypertrophy7.9BAG3, DES, DMD, FLNC, LDB3, MYOT

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



Diseases related to myofibrillar myopathy

Symptoms for Myofibrillar Myopathy

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UMLS symptoms related to Myofibrillar Myopathy:


facial paresis

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 Myopathy25 23 MYOT

Anatomical Context for Myofibrillar Myopathy

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MalaCards organs/tissues related to Myofibrillar Myopathy:

34
Skeletal muscle, Heart

Animal Models for Myofibrillar Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Myofibrillar Myopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3BAG3, DMD, FLNC, LDB3
2MP:00053697.8BAG3, DES, DMD, FLNC, LDB3
3MP:00053867.5BAG3, DES, DMD, FLNC, LDB3
4MP:00053857.2BAG3, DES, DMD, FLNC, LDB3

Publications for Myofibrillar Myopathy

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Articles related to Myofibrillar Myopathy:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. (27546599)
2016
2
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. (26969713)
2016
3
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. (26828629)
2016
4
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. (27443559)
2016
5
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
6
BAG3 myofibrillar myopathy presenting with cardiomyopathy. (25728519)
2015
7
Severe congenital actin related myopathy with myofibrillar myopathy features. (25913210)
2015
8
InA vivo characterization of human myofibrillar myopathy genes in zebrafish. (25866181)
2015
9
Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy. (24758315)
2014
10
Anesthetic considerations in myofibrillar myopathy. (25216331)
2014
11
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. (25541946)
2014
12
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
13
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. (23486992)
2013
14
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. (23238331)
2013
15
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. (22153487)
2012
16
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. (22395865)
2012
17
Camptocormia as presenting sign in myofibrillar myopathy. (22749474)
2012
18
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. (22199023)
2012
19
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. (22806379)
2012
20
Desmin filaments and their disorganization associated with myofibrillar myopathies]. (21982405)
2011
21
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. (21676617)
2011
22
Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy. (21481933)
2011
23
Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study. (21528768)
2010
24
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (20448486)
2010
25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (20605452)
2010
26
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. (19151983)
2009
27
Myofibrillar myopathies: a clinical and myopathological guide. (19563540)
2009
28
Myofibrillar myopathies. (18769253)
2008
29
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. (18653338)
2008
30
Molecular pathology of myofibrillar myopathies. (18764962)
2008
31
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. (18197198)
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
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. (15912881)
2005
35
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (15929027)
2005
36
Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. (15210162)
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
Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. (15198127)
2004
41
Clinical and histologic studies of a Qatari family with myofibrillar myopathy. (15573212)
2004
42
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (14681890)
2003
43
Myofibrillar myopathies]. (14593638)
2003
44
Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases. (12669240)
2003
45
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. (11310634)
2001
46
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
47
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. (10078743)
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. 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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYOTNM_006790.2(MYOT): c.179C> G (p.Ser60Cys)single nucleotide variantPathogenicrs121908458GRCh37Chr 5, 137206519: 137206519

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

idSuper pathwaysScoreTop Affiliating Genes
19.4DES, DMD

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
1costamereGO:00430349.5DMD, FLNC
2sarcolemmaGO:00423838.6DES, DMD, FLNC, MYOT
3cytoskeletonGO:00058568.4DES, DMD, FLNC, LDB3
4Z discGO:00300187.3BAG3, DES, DMD, FLNC, LDB3, MYOT

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.5DES, DMD
2muscle contractionGO:00069369.4DES, MYOT
3cytoskeleton organizationGO:00070109.4DES, DMD
4muscle fiber developmentGO:00487479.4DMD, FLNC

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.4DES, DMD
2structural constituent of muscleGO:00083079.2DMD, MYOT
3cytoskeletal protein bindingGO:00080928.8DES, FLNC, LDB3

Sources for Myofibrillar Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet