MFM3
MCID: MYP078
MIFTS: 49

Myopathy, Myofibrillar, 3 (MFM3)

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

Aliases & Classifications for Myopathy, Myofibrillar, 3

MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 56 73 71
Myotilinopathy 56 12 73 13 71
Myofibrillar Myopathy 3 12 29 6 15
Lgmd1a 58 73 54
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 12 58
Mfm3 56 73
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly; Lgmd1a, Formerly 56
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly; Lgmd1, Formerly 56
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency 58
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly 56
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly 56
Myopathy, Myofibrillar, Myotilin-Related 56
Muscular Dystrophy, Limb-Girdle, Type 1a 73
Muscular Dystrophy, Limb-Girdle, Type 1 73
Myopathy Myofibrillar Myotylin-Related 73
Limb-Girdle Muscular Dystrophy 1a 73
Myopathy, Myofibrillar, Type 3 39
Distal Myotilinopathy 58
Mfm Myotilin-Related 73
Lgmd1a, Formerly 56
Lgmd1, Formerly 56
Lgmd1 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant limb-girdle muscular dystrophy type 1a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
adult onset (mean 60 years)
limb-girdle muscular dystrophy 1a (lgmd1a, ) is an allelic disorder with overlapping clinical features


HPO:

31
myopathy, myofibrillar, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.

MalaCards based summary : Myopathy, Myofibrillar, 3, also known as myotilinopathy, is related to centronuclear myopathy and autosomal dominant limb-girdle muscular dystrophy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle and myeloid, and related phenotypes are peripheral neuropathy and hyporeflexia

Disease Ontology : 12 A myofibrillar myopathy that has material basis in heterozygous mutation in the TTID gene on chromosome 5q31.

OMIM : 56 Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (609200)

Related Diseases for Myopathy, Myofibrillar, 3

Diseases in the Myofibrillar Myopathy family:

Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2
Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4
Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6
Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8

Diseases related to Myopathy, Myofibrillar, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 30.2 TTN DYSF CAV3
2 autosomal dominant limb-girdle muscular dystrophy 29.5 MYOT FLNC CAV3 CAPN3 BAG3
3 miyoshi muscular dystrophy 29.4 TTN TCAP MYOT FKRP DYSF CAV3
4 myopathy, myofibrillar, 2 29.3 MYOT LDB3 FLNC CRYAB BAG3
5 limb-girdle muscular dystrophy 29.2 TTN TRIM32 TCAP MYOT FKRP DYSF
6 tibial muscular dystrophy 29.1 TTN TCAP MYOT LDB3 FLNC DYSF
7 myopathy, spheroid body 28.6 TRIM32 TCAP MYPN MYOZ1 MYOT LDB3
8 myofibrillar myopathy 28.3 TTN TCAP SYNC MYPN MYOZ1 MYOT
9 myopathy, myofibrillar, 1 27.5 TTN SYNC MYPN MYOT LDB3 FLNC
10 myopathy 27.0 TTN TRIM32 TCAP MYPN MYOT LDB3
11 muscular dystrophy 26.0 TTN TRIM32 TCAP SYNC MYOT LDB3
12 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT CAV3
13 isolated elevated serum creatine phosphokinase levels 10.3 TCAP CAV3
14 gne-related myopathy 10.3
15 paresthesia 10.3 FKRP CAPN3
16 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 MYOT DYSF
17 familial isolated restrictive cardiomyopathy 10.2 MYPN FLNC
18 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP CAPN3
19 dysferlinopathy 10.2 DYSF CAPN3
20 creatine phosphokinase, elevated serum 10.2 TCAP CAV3
21 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 MYOT CAV3
22 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF CAV3
23 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TTN LDB3
26 cardiomyopathy, dilated, 1d 10.1 LDB3 FKRP
27 rippling muscle disease 2 10.1 FKRP DYSF CAV3
28 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 TRIM32 MYOT FKRP
29 respiratory failure 10.1
30 peripheral nervous system disease 10.1
31 neuropathy 10.1
32 limb-girdle muscular dystrophy type 1a 10.1
33 autosomal dominant distal myopathy 10.1
34 congenital fiber-type disproportion 10.1 TTN MYOT DYSF
35 central core disease of muscle 10.1
36 leukemia, acute myeloid 10.1
37 leukemia 10.1
38 nemaline myopathy 10.1
39 central core myopathy 10.1
40 myeloid leukemia 10.1
41 cardiomyopathy, dilated, 1dd 10.1 TTN LDB3
42 ullrich congenital muscular dystrophy 1 10.1 FKRP DYSF CAPN3
43 intrinsic cardiomyopathy 10.1 TTN TCAP CAV3
44 miyoshi muscular dystrophy 3 10.1 DYSF CAPN3
45 congenital structural myopathy 10.0 TTN MYPN MYOT
46 cardiomyopathy, dilated, 3b 9.9 MYOZ1 DYSF CAV3
47 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 FKRP DYSF CAV3 CAPN3
48 muscular dystrophy, congenital, lmna-related 9.9 TTN FKRP DYSF CAV3
49 myositis 9.9 TTN DYSF CAPN3
50 muscular dystrophy, congenital merosin-deficient, 1a 9.8 FKRP DYSF

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 3:



Diseases related to Myopathy, Myofibrillar, 3

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

Human phenotypes related to Myopathy, Myofibrillar, 3:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
2 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
3 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
4 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
5 shoulder girdle muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003547
6 progressive distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009063
7 abnormal muscle fiber myotilin 58 31 hallmark (90%) Very frequent (99-80%) HP:0030226
8 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
9 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
10 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003458
11 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
12 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
13 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
14 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
15 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
16 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
17 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
18 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
19 increased endomysial connective tissue 58 31 frequent (33%) Frequent (79-30%) HP:0100297
20 limited elbow flexion 58 31 frequent (33%) Frequent (79-30%) HP:0006376
21 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
22 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
23 autophagic vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003736
24 limited knee flexion/extension 58 31 frequent (33%) Frequent (79-30%) HP:0005085
25 hip flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0012515
26 loss of ability to walk in first decade 58 31 frequent (33%) Frequent (79-30%) HP:0006794
27 elevated serum creatine kinase 31 frequent (33%) HP:0003236
28 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
29 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
30 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
31 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
32 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
33 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
34 reduced maximal inspiratory pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012496
35 respiratory insufficiency 58 Occasional (29-5%)
36 elevated serum creatine phosphokinase 58 Frequent (79-30%),Frequent (79-30%)
37 areflexia 31 HP:0001284
38 myalgia 31 HP:0003326
39 achilles tendon contracture 31 HP:0001771
40 pelvic girdle muscle weakness 58 Very frequent (99-80%)
41 functional respiratory abnormality 58 Occasional (29-5%)
42 polyneuropathy 31 HP:0001271
43 myofibrillar myopathy 31 HP:0003715
44 hyporeflexia of lower limbs 31 HP:0002600
45 muscle fiber cytoplasmatic inclusion bodies 31 HP:0100303

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia/areflexia in lower limbs

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
muscle atrophy, distal
proximal muscle involvement may occur
muscle weakness, distal, progressive
muscle stiffness or aching
emg shows myopathic and neurogenic changes
more
Cardiovascular Heart:
cardiomyopathy

Skeletal Feet:
achilles tendon contractures

Clinical features from OMIM:

609200

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 BAG3 CRYAB DYSF FKRP FLNC LDB3
2 cardiovascular system MP:0005385 9.85 BAG3 CAPN3 CAV3 FKRP FLNC LDB3
3 homeostasis/metabolism MP:0005376 9.77 BAG3 CAPN3 CAV3 CRYAB DYSF FKRP
4 muscle MP:0005369 9.47 BAG3 CAPN3 CAV3 CRYAB DYSF FKRP

Drugs & Therapeutics for Myopathy, Myofibrillar, 3

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 3

Genetic Tests for Myopathy, Myofibrillar, 3

Genetic tests related to Myopathy, Myofibrillar, 3:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 3 29

Anatomical Context for Myopathy, Myofibrillar, 3

MalaCards organs/tissues related to Myopathy, Myofibrillar, 3:

40
Skeletal Muscle, Myeloid

Publications for Myopathy, Myofibrillar, 3

Articles related to Myopathy, Myofibrillar, 3:

(show all 48)
# Title Authors PMID Year
1
Mutations in myotilin cause myofibrillar myopathy. 61 56 6
15111675 2004
2
myotilin Mutation found in second pedigree with LGMD1A. 54 56 6
12428213 2002
3
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56 6
30055862 2018
4
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 56 6
21336781 2011
5
Myotilin is mutated in limb girdle muscular dystrophy 1A. 56 6
10958653 2000
6
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
7
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
8
A mutation in myotilin causes spheroid body myopathy. 56
16380616 2005
9
Myofibrillar Myopathy 6
20301672 2005
10
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. 56
9828127 1998
11
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 56
9598725 1998
12
Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. 56
9529338 1998
13
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 56
7881291 1994
14
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 56
1598902 1992
15
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 56
3275904 1988
16
Hereditary myopathy limited to females. 56
6053567 1967
17
Myotilinopathy: refining the clinical and myopathological phenotype. 54 61
15947064 2005
18
Myotilinopathy unmasked by statin treatment: A case report. 61
29350769 2018
19
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 61
28915917 2017
20
New aspects of myofibrillar myopathies. 61
27389816 2016
21
Myofibrillar and distal myopathies. 61
27638134 2016
22
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 61
27854214 2016
23
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 61
26842778 2016
24
In vivo characterization of mutant myotilins. 61
22349301 2012
25
Protein aggregation in congenital myopathies. 61
22172423 2011
26
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 61
21361873 2011
27
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 61
19225410 2009
28
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. 61
19151983 2009
29
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 61
19027924 2009
30
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. 61
18648820 2008
31
Distinct muscle imaging patterns in myofibrillar myopathies. 61
18765652 2008
32
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 54
18335471 2008
33
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 61
17698502 2008
34
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. 61
17931355 2008
35
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. 61
17823282 2007
36
Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. 61
17784878 2007
37
Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. 61
17882015 2007
38
Myotilin: a prominent marker of myofibrillar remodelling. 54
17056257 2007
39
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 54
16801328 2006
40
Myotilinopathy in a family with late onset myopathy. 61
16793270 2006
41
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 61
16684602 2006
42
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. 61
15978589 2005
43
Characterization of mouse myotilin and its promoter. 54
15752755 2005
44
Congenital myopathies in the new millennium. 61
15794172 2005
45
[Limb girdle muscular dystrophies]. 54
15316618 2004
46
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 54
12899871 2003
47
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 54
12499399 2003
48
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. 54
11335118 2001

Variations for Myopathy, Myofibrillar, 3

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT):c.179C>G (p.Ser60Cys)SNV Pathogenic 5836 rs121908458 5:137206519-137206519 5:137870830-137870830
2 MYOT NM_006790.2(MYOT):c.179C>T (p.Ser60Phe)SNV Pathogenic 5837 rs121908458 5:137206519-137206519 5:137870830-137870830
3 MYOT NM_001135940.2(MYOT):c.-197+410G>TSNV Pathogenic 5838 rs121908460 5:137206624-137206624 5:137870935-137870935
4 MYOT NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)SNV Pathogenic 5834 rs28937597 5:137206510-137206510 5:137870821-137870821
5 MYOT NM_006790.2(MYOT):c.164C>T (p.Ser55Phe)SNV Pathogenic/Likely pathogenic 5835 rs121908457 5:137206504-137206504 5:137870815-137870815
6 MYOT NM_006790.2(MYOT):c.398C>T (p.Pro133Leu)SNV Conflicting interpretations of pathogenicity 533010 rs779568205 5:137211559-137211559 5:137875870-137875870
7 MYOT NM_006790.2(MYOT):c.1364G>A (p.Arg455Gln)SNV Conflicting interpretations of pathogenicity 583005 rs141801816 5:137222941-137222941 5:137887252-137887252
8 MYOT NM_006790.2(MYOT):c.1364G>C (p.Arg455Pro)SNV Uncertain significance 580973 rs141801816 5:137222941-137222941 5:137887252-137887252
9 MYOT NM_006790.2(MYOT):c.1A>T (p.Met1Leu)SNV Uncertain significance 580989 rs1561657261 5:137206341-137206341 5:137870652-137870652
10 MYOT NM_006790.2(MYOT):c.653C>A (p.Ala218Glu)SNV Uncertain significance 567277 rs533510304 5:137216524-137216524 5:137880835-137880835
11 MYOT NM_006790.2(MYOT):c.67C>T (p.Pro23Ser)SNV Uncertain significance 596221 rs751876756 5:137206407-137206407 5:137870718-137870718
12 MYOT NM_006790.2(MYOT):c.83C>T (p.Thr28Ile)SNV Uncertain significance 657689 5:137206423-137206423 5:137870734-137870734
13 MYOT NM_006790.2(MYOT):c.86C>T (p.Ser29Phe)SNV Uncertain significance 657688 5:137206426-137206426 5:137870737-137870737
14 MYOT NM_006790.2(MYOT):c.182A>C (p.His61Pro)SNV Uncertain significance 664775 5:137206522-137206522 5:137870833-137870833
15 MYOT NM_006790.2(MYOT):c.392C>A (p.Ala131Glu)SNV Uncertain significance 655808 5:137211553-137211553 5:137875864-137875864
16 MYOT NM_006790.2(MYOT):c.650A>G (p.His217Arg)SNV Uncertain significance 662891 5:137216521-137216521 5:137880832-137880832
17 MYOT NM_006790.2(MYOT):c.784G>C (p.Asp262His)SNV Uncertain significance 641132 5:137217762-137217762 5:137882073-137882073
18 MYOT NM_006790.2(MYOT):c.1139T>C (p.Leu380Pro)SNV Uncertain significance 650010 5:137221851-137221851 5:137886162-137886162
19 MYOT NM_006790.2(MYOT):c.1159G>A (p.Glu387Lys)SNV Uncertain significance 657395 5:137221871-137221871 5:137886182-137886182
20 MYOT NM_006790.2(MYOT):c.1195T>C (p.Tyr399His)SNV Uncertain significance 657756 5:137222557-137222557 5:137886868-137886868
21 MYOT NM_006790.2(MYOT):c.816+5G>TSNV Uncertain significance 533013 rs750433300 5:137217799-137217799 5:137882110-137882110
22 MYOT NM_006790.2(MYOT):c.145G>C (p.Glu49Gln)SNV Uncertain significance 571511 rs199760778 5:137206485-137206485 5:137870796-137870796
23 MYOT NM_006790.2(MYOT):c.937G>A (p.Val313Ile)SNV Uncertain significance 533011 rs760955035 5:137219193-137219193 5:137883504-137883504
24 MYOT NM_006790.2(MYOT):c.98G>T (p.Ser33Ile)SNV Uncertain significance 464376 rs1554102559 5:137206438-137206438 5:137870749-137870749
25 MYOT NM_001135940.2(MYOT):c.-181deldeletion Uncertain significance 464370 rs781353247 5:137211533-137211533 5:137875844-137875844
26 MYOT NM_006790.2(MYOT):c.391G>T (p.Ala131Ser)SNV Uncertain significance 464372 rs1554102961 5:137211552-137211552 5:137875863-137875863
27 MYOT NM_006790.2(MYOT):c.387A>G (p.Ile129Met)SNV Uncertain significance 464371 rs1554102960 5:137211548-137211548 5:137875859-137875859
28 MYOT NM_006790.2(MYOT):c.1345C>G (p.Pro449Ala)SNV Uncertain significance 464366 rs766650528 5:137222922-137222922 5:137887233-137887233
29 MYOT NM_006790.2(MYOT):c.1497A>T (p.Ter499Tyr)SNV Uncertain significance 464368 rs779978043 5:137223074-137223074 5:137887385-137887385
30 MYOT NM_006790.2(MYOT):c.257C>A (p.Thr86Lys)SNV Uncertain significance 499699 rs1205992276 5:137206597-137206597 5:137870908-137870908
31 MYOT NM_006790.2(MYOT):c.17G>A (p.Arg6His)SNV Uncertain significance 30407 rs387906882 5:137206357-137206357 5:137870668-137870668
32 MYOT NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe)SNV Uncertain significance 283264 rs146426896 5:137222990-137222990 5:137887301-137887301
33 MYOT NM_006790.2(MYOT):c.563G>T (p.Arg188Ile)SNV Uncertain significance 286597 rs370165036 5:137213240-137213240 5:137877551-137877551
34 MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)SNV Uncertain significance 288959 rs144731446 5:137222648-137222648 5:137886959-137886959
35 MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)SNV Uncertain significance 351029 rs145427063 5:137222978-137222978 5:137887289-137887289
36 MYOT NM_006790.2(MYOT):c.49T>C (p.Cys17Arg)SNV Likely benign 464374 rs202005786 5:137206389-137206389 5:137870700-137870700
37 MYOT NM_006790.2(MYOT):c.999C>A (p.Thr333=)SNV Likely benign 533015 rs1320608556 5:137219255-137219255 5:137883566-137883566
38 MYOT NM_006790.2(MYOT):c.1275A>T (p.Ala425=)SNV Likely benign 533014 rs140678912 5:137222637-137222637 5:137886948-137886948
39 MYOT NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)SNV Benign/Likely benign 129683 rs34717730 5:137206489-137206489 5:137870800-137870800
40 MYOT NM_006790.2(MYOT):c.780G>A (p.Ser260=)SNV Benign/Likely benign 129684 rs116773838 5:137217758-137217758 5:137882069-137882069
41 MYOT NM_001135940.2(MYOT):c.-197+346=SNV Benign 167317 rs6890689 5:137206560-137206560 5:137870871-137870871

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 3:

73
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser55Phe VAR_021569
2 MYOT p.Thr57Ile VAR_021570 rs28937597
3 MYOT p.Ser60Cys VAR_021571
4 MYOT p.Ser60Phe VAR_021572
5 MYOT p.Ser95Ile VAR_021573

Expression for Myopathy, Myofibrillar, 3

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 3.

Pathways for Myopathy, Myofibrillar, 3

GO Terms for Myopathy, Myofibrillar, 3

Cellular components related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 TTN TRIM32 TCAP MYPN MYOT LDB3
2 sarcomere GO:0030017 9.5 TTN TCAP MYPN
3 I band GO:0031674 9.46 TTN TCAP MYPN CRYAB
4 M band GO:0031430 9.43 TTN CRYAB
5 T-tubule GO:0030315 9.43 DYSF CAV3 CAPN3
6 sarcolemma GO:0042383 9.43 SYNC MYOT FLNC FKRP DYSF CAV3
7 pseudopodium GO:0031143 9.4 MYOZ1 LDB3
8 Z disc GO:0030018 9.4 TTN TCAP SYNC MYPN MYOZ1 MYOT

Biological processes related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.73 CRYAB CAV3 CAPN3
2 muscle contraction GO:0006936 9.65 TTN MYOT DYSF CRYAB CAV3
3 regulation of catalytic activity GO:0050790 9.61 TTN CAPN3 BAG3
4 positive regulation of proteolysis GO:0045862 9.59 TRIM32 CAPN3
5 muscle fiber development GO:0048747 9.58 FLNC DYSF
6 cardiac myofibril assembly GO:0055003 9.58 TTN TCAP
7 cardiac muscle tissue morphogenesis GO:0055008 9.57 TTN TCAP
8 myofibril assembly GO:0030239 9.55 MYOZ1 CAPN3
9 cardiac muscle fiber development GO:0048739 9.54 TTN TCAP
10 plasma membrane repair GO:0001778 9.52 DYSF CAV3
11 cardiac muscle hypertrophy GO:0003300 9.51 TTN TCAP
12 muscle structure development GO:0061061 9.49 LDB3 CAPN3
13 regulation of calcium ion import GO:0090279 9.48 DYSF CAV3
14 skeletal muscle thin filament assembly GO:0030240 9.46 TTN TCAP
15 T-tubule organization GO:0033292 9.4 DYSF CAV3
16 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TTN TCAP
17 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
18 sarcomerogenesis GO:0048769 9.32 TTN TCAP
19 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 CAV3 CAPN3 BAG3
20 sarcomere organization GO:0045214 9.1 TTN TCAP MYPN MYOZ1 LDB3 CAPN3

Molecular functions related to Myopathy, Myofibrillar, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.65 MYPN MYOZ1 MYOT LDB3 FLNC
2 cytoskeletal protein binding GO:0008092 9.46 MYPN LDB3 FLNC CRYAB
3 alpha-tubulin binding GO:0043014 9.43 DYSF CAV3
4 titin binding GO:0031432 9.4 TCAP CAPN3
5 telethonin binding GO:0031433 9.37 TTN MYOZ1
6 FATZ binding GO:0051373 9.32 TCAP MYOZ1
7 muscle alpha-actinin binding GO:0051371 9.13 TTN MYPN LDB3
8 structural constituent of muscle GO:0008307 8.92 TTN TCAP MYOT CAPN3

Sources for Myopathy, Myofibrillar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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