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MFM3
MCID: MYP078
MIFTS: 50

Myopathy, Myofibrillar, 3 (MFM3)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Myopathy, Myofibrillar, 3

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MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 56 73 71
Myotilinopathy 56 12 58 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
Qualitative or Quantitative Defects of Myotilin 58
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Myopathy, Myofibrillar, 3

About this section
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 autosomal dominant distal myopathy and centronuclear myopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, 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)

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Related Diseases for Myopathy, Myofibrillar, 3

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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 120)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal myopathy 30.4 MYOT DMD
2 centronuclear myopathy 29.8 TTN DYSF DMD CAV3
3 respiratory failure 29.7 TTN MYPN FKRP DMD
4 autosomal dominant limb-girdle muscular dystrophy 29.2 TCAP MYOT FLNC DYSF CAV3 CAPN3
5 miyoshi muscular dystrophy 28.9 TTN TCAP MYOT FKRP DYSF DMD
6 myopathy, myofibrillar, 2 28.1 SYNC PLEC MYOT LDB3 FLNC DMD
7 myopathy, spheroid body 28.1 TRIM32 TCAP MYPN MYOZ1 MYOT LDB3
8 myofibrillar myopathy 27.7 TTN TCAP SYNC PLEC MYPN MYOZ1
9 limb-girdle muscular dystrophy 27.6 TTN TRIM32 TCAP PLEC MYOT FLNC
10 left ventricular noncompaction 27.5 TTN TCAP MYPN MYOZ1 MYOT LDB3
11 myopathy, myofibrillar, 1 27.0 TTN SYNC PLEC MYPN MYOT LDB3
12 muscular dystrophy 25.8 TTN TRIM32 TCAP SYNC PLEC MYOT
13 myopathy 25.2 TTN TRIM32 TCAP SYNC PLEC MYPN
14 muscular dystrophy, limb-girdle, type 1h 10.4 MYOT CAV3
15 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 MYOT DYSF
16 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 MYOT CAV3
17 paresthesia 10.3 FKRP CAPN3
18 dysferlinopathy 10.3 DYSF CAPN3
19 familial isolated restrictive cardiomyopathy 10.3 MYPN FLNC
20 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
21 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF CAV3
22 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LDB3
23 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LDB3
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LDB3
25 reducing body myopathy 10.2 TTN DMD
26 cardiomyopathy, dilated, 1d 10.2 LDB3 FKRP
27 cardiomyopathy, dilated, 1dd 10.2 TTN LDB3
28 hyaline body myopathy 10.2 TTN MYOT
29 muscular dystrophy-dystroglycanopathy , type c, 2 10.2 TRIM32 FKRP
30 localized lipodystrophy 10.2 DYSF DMD
31 rippling muscle disease 2 10.2 FKRP DYSF CAV3
32 miyoshi muscular dystrophy 3 10.2 DYSF CAPN3
33 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 TTN DMD
34 myopathy, centronuclear, 1 10.1 MYOT FLNC 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 congenital structural myopathy 10.1 TTN MYPN MYOT
42 hernia, hiatus 10.1
43 strabismus 10.1
44 nonaka myopathy 10.1
45 coronary heart disease 1 10.1
46 esophagitis 10.1
47 peptic esophagitis 10.1
48 peripheral nervous system disease 10.1
49 neuropathy 10.1
50 mechanical strabismus 10.1

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



Diseases related to Myopathy, Myofibrillar, 3
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Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

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Human phenotypes related to Myopathy, Myofibrillar, 3:

58 31 (show all 44)
# 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 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
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 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003236
9 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003458
10 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
11 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
12 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
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 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
16 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
17 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
18 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
19 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
20 autophagic vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003736
21 limited elbow flexion 58 31 frequent (33%) Frequent (79-30%) HP:0006376
22 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
23 hip flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0012515
24 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
25 increased endomysial connective tissue 58 31 frequent (33%) Frequent (79-30%) HP:0100297
26 limited knee flexion/extension 58 31 frequent (33%) Frequent (79-30%) HP:0005085
27 loss of ability to walk in first decade 58 31 frequent (33%) Frequent (79-30%) HP:0006794
28 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
29 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
30 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
31 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
32 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
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 myalgia 31 HP:0003326
36 respiratory insufficiency 58 Occasional (29-5%)
37 achilles tendon contracture 31 HP:0001771
38 pelvic girdle muscle weakness 58 Very frequent (99-80%)
39 areflexia 31 HP:0001284
40 polyneuropathy 31 HP:0001271
41 myofibrillar myopathy 31 HP:0003715
42 functional respiratory abnormality 58 Occasional (29-5%)
43 hyporeflexia of lower limbs 31 HP:0002600
44 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 10.11 BAG3 DMD DYSF FKRP FLNC LDB3
2 cardiovascular system MP:0005385 10.1 BAG3 CAPN3 CAV3 DMD FKRP FLNC
3 homeostasis/metabolism MP:0005376 10 BAG3 CAPN3 CAV3 DMD DYSF FKRP
4 growth/size/body region MP:0005378 9.96 BAG3 CAPN3 DMD FKRP FLNC LDB3
5 muscle MP:0005369 9.83 BAG3 CAPN3 CAV3 DMD DYSF FKRP
6 normal MP:0002873 9.17 CAPN3 DMD FKRP MYOT MYPN PLEC
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Drugs & Therapeutics for Myopathy, Myofibrillar, 3

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

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Genetic Tests for Myopathy, Myofibrillar, 3

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Genetic tests related to Myopathy, Myofibrillar, 3:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy 3 29 MYOT
Sources

Anatomical Context for Myopathy, Myofibrillar, 3

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

40
Skeletal Muscle
Sources

Publications for Myopathy, Myofibrillar, 3

About this section

Articles related to Myopathy, Myofibrillar, 3:

(show all 49)
# Title Authors PMID Year
1
Mutations in myotilin cause myofibrillar myopathy. 56 6 61
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. 6 56
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 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 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
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
12
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 56
9598725 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
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 61
32509353 2020
19
Myotilinopathy unmasked by statin treatment: A case report. 61
29350769 2018
20
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 61
28915917 2017
21
New aspects of myofibrillar myopathies. 61
27389816 2016
22
Myofibrillar and distal myopathies. 61
27638134 2016
23
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 61
27854214 2016
24
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 61
26842778 2016
25
In vivo characterization of mutant myotilins. 61
22349301 2012
26
Protein aggregation in congenital myopathies. 61
22172423 2011
27
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 61
21361873 2011
28
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 61
19225410 2009
29
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. 61
19151983 2009
30
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 61
19027924 2009
31
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. 61
18648820 2008
32
Distinct muscle imaging patterns in myofibrillar myopathies. 61
18765652 2008
33
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 54
18335471 2008
34
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 61
17698502 2008
35
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. 61
17931355 2008
36
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. 61
17823282 2007
37
Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. 61
17784878 2007
38
Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. 61
17882015 2007
39
Myotilin: a prominent marker of myofibrillar remodelling. 54
17056257 2007
40
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 54
16801328 2006
41
Myotilinopathy in a family with late onset myopathy. 61
16793270 2006
42
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 61
16684602 2006
43
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. 61
15978589 2005
44
Characterization of mouse myotilin and its promoter. 54
15752755 2005
45
Congenital myopathies in the new millennium. 61
15794172 2005
46
[Limb girdle muscular dystrophies]. 54
15316618 2004
47
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 54
12899871 2003
48
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 54
12499399 2003
49
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. 54
11335118 2001
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Variations for Myopathy, Myofibrillar, 3

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ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6 (show top 50) (show all 90) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)SNV Pathogenic 5834 rs28937597 5:137206510-137206510 5:137870821-137870821
2 MYOT NM_006790.2(MYOT):c.179C>G (p.Ser60Cys)SNV Pathogenic 5836 rs121908458 5:137206519-137206519 5:137870830-137870830
3 MYOT NM_006790.2(MYOT):c.179C>T (p.Ser60Phe)SNV Pathogenic 5837 rs121908458 5:137206519-137206519 5:137870830-137870830
4 MYOT NM_001135940.2(MYOT):c.-197+410G>TSNV Pathogenic 5838 rs121908460 5:137206624-137206624 5:137870935-137870935
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.1364G>A (p.Arg455Gln)SNV Conflicting interpretations of pathogenicity 583005 rs141801816 5:137222941-137222941 5:137887252-137887252
7 MYOT NM_006790.2(MYOT):c.594G>A (p.Val198=)SNV Conflicting interpretations of pathogenicity 598482 rs372287923 5:137213271-137213271 5:137877582-137877582
8 MYOT NM_006790.2(MYOT):c.120T>A (p.Ile40=)SNV Conflicting interpretations of pathogenicity 95438 rs139254363 5:137206460-137206460 5:137870771-137870771
9 MYOT NM_006790.2(MYOT):c.1439A>G (p.Glu480Gly)SNV Conflicting interpretations of pathogenicity 167319 rs727504026 5:137223016-137223016 5:137887327-137887327
10 MYOT NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)SNV Conflicting interpretations of pathogenicity 281070 rs142416150 5:137206663-137206663 5:137870974-137870974
11 MYOT NM_006790.3(MYOT):c.683+8deldeletion Conflicting interpretations of pathogenicity 464375 rs760217241 5:137216557-137216557 5:137880868-137880868
12 MYOT NM_006790.2(MYOT):c.398C>T (p.Pro133Leu)SNV Conflicting interpretations of pathogenicity 533010 rs779568205 5:137211559-137211559 5:137875870-137875870
13 MYOT NM_006790.2(MYOT):c.342C>T (p.Ser114=)SNV Conflicting interpretations of pathogenicity 282122 rs34593399 5:137206682-137206682 5:137870993-137870993
14 MYOT NM_006790.2(MYOT):c.1275A>G (p.Ala425=)SNV Conflicting interpretations of pathogenicity 286194 rs140678912 5:137222637-137222637 5:137886948-137886948
15 MYOT NM_006790.2(MYOT):c.1401T>C (p.Asn467=)SNV Conflicting interpretations of pathogenicity 288403 rs145427063 5:137222978-137222978 5:137887289-137887289
16 MYOT NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)SNV Conflicting interpretations of pathogenicity 351023 rs114194130 5:137206683-137206683 5:137870994-137870994
17 MYOT NM_006790.2(MYOT):c.533G>A (p.Arg178His)SNV Conflicting interpretations of pathogenicity 351025 rs150293853 5:137213210-137213210 5:137877521-137877521
18 MYOT NM_006790.2(MYOT):c.*418T>CSNV Uncertain significance 351033 rs778508971 5:137223492-137223492 5:137887803-137887803
19 MYOT NM_006790.2(MYOT):c.1222T>C (p.Leu408=)SNV Uncertain significance 351028 rs886059968 5:137222584-137222584 5:137886895-137886895
20 MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)SNV Uncertain significance 351029 rs145427063 5:137222978-137222978 5:137887289-137887289
21 MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)SNV Uncertain significance 288959 rs144731446 5:137222648-137222648 5:137886959-137886959
22 MYOT NM_006790.2(MYOT):c.1453C>T (p.Arg485Cys)SNV Uncertain significance 290482 rs140755418 5:137223030-137223030 5:137887341-137887341
23 MYOT NM_006790.2(MYOT):c.563G>T (p.Arg188Ile)SNV Uncertain significance 286597 rs370165036 5:137213240-137213240 5:137877551-137877551
24 MYOT NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe)SNV Uncertain significance 283264 rs146426896 5:137222990-137222990 5:137887301-137887301
25 MYOT NM_006790.2(MYOT):c.937G>A (p.Val313Ile)SNV Uncertain significance 533011 rs760955035 5:137219193-137219193 5:137883504-137883504
26 MYOT NM_006790.2(MYOT):c.816+5G>TSNV Uncertain significance 533013 rs750433300 5:137217799-137217799 5:137882110-137882110
27 MYOT NM_001135940.2(MYOT):c.-181deldeletion Uncertain significance 464370 rs781353247 5:137211533-137211533 5:137875844-137875844
28 MYOT NM_006790.2(MYOT):c.145G>C (p.Glu49Gln)SNV Uncertain significance 571511 rs199760778 5:137206485-137206485 5:137870796-137870796
29 MYOT NM_006790.2(MYOT):c.387A>G (p.Ile129Met)SNV Uncertain significance 464371 rs1554102960 5:137211548-137211548 5:137875859-137875859
30 MYOT NM_006790.2(MYOT):c.1345C>G (p.Pro449Ala)SNV Uncertain significance 464366 rs766650528 5:137222922-137222922 5:137887233-137887233
31 MYOT NM_006790.2(MYOT):c.1497A>T (p.Ter499Tyr)SNV Uncertain significance 464368 rs779978043 5:137223074-137223074 5:137887385-137887385
32 MYOT NM_006790.2(MYOT):c.257C>A (p.Thr86Lys)SNV Uncertain significance 499699 rs1205992276 5:137206597-137206597 5:137870908-137870908
33 MYOT NM_006790.2(MYOT):c.98G>T (p.Ser33Ile)SNV Uncertain significance 464376 rs1554102559 5:137206438-137206438 5:137870749-137870749
34 MYOT NM_006790.2(MYOT):c.391G>T (p.Ala131Ser)SNV Uncertain significance 464372 rs1554102961 5:137211552-137211552 5:137875863-137875863
35 MYOT NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)SNV Uncertain significance 852985 5:137206487-137206487 5:137870798-137870798
36 MYOT NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)SNV Uncertain significance 839777 5:137217664-137217664 5:137881975-137881975
37 MYOT NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)SNV Uncertain significance 853618 5:137217679-137217679 5:137881990-137881990
38 MYOT NM_006790.3(MYOT):c.966A>G (p.Ala322=)SNV Uncertain significance 842280 5:137219222-137219222 5:137883533-137883533
39 MYOT NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)SNV Uncertain significance 842635 5:137221896-137221896 5:137886207-137886207
40 MYOT NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)SNV Uncertain significance 847336 5:137222995-137222995 5:137887306-137887306
41 MYOT NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)SNV Uncertain significance 858164 5:137223048-137223048 5:137887359-137887359
42 MYOT NM_006790.3(MYOT):c.1025-3T>CSNV Uncertain significance 859200 5:137221734-137221734 5:137886045-137886045
43 MYOT NM_006790.3(MYOT):c.-286C>GSNV Uncertain significance 903840 5:137203568-137203568 5:137867879-137867879
44 MYOT NM_006790.3(MYOT):c.191T>A (p.Met64Lys)SNV Uncertain significance 906250 5:137206531-137206531 5:137870842-137870842
45 MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile)SNV Uncertain significance 903901 5:137206688-137206688 5:137870999-137870999
46 MYOT NM_006790.3(MYOT):c.*50T>GSNV Uncertain significance 906367 5:137223124-137223124 5:137887435-137887435
47 MYOT NM_006790.3(MYOT):c.*188A>CSNV Uncertain significance 906368 5:137223262-137223262 5:137887573-137887573
48 MYOT NM_006790.3(MYOT):c.*311A>TSNV Uncertain significance 907372 5:137223385-137223385 5:137887696-137887696
49 MYOT NM_006790.3(MYOT):c.*372G>ASNV Uncertain significance 907373 5:137223446-137223446 5:137887757-137887757
50 MYOT NM_006790.2(MYOT):c.17G>A (p.Arg6His)SNV Uncertain significance 30407 rs387906882 5:137206357-137206357 5:137870668-137870668

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

Sources

Expression for Myopathy, Myofibrillar, 3

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

Pathways for Myopathy, Myofibrillar, 3

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.08 TTN TCAP DYSF DMD CAV3
2
Striated Muscle Contraction 65 1
10.66 TTN TCAP DMD
Sources

GO Terms for Myopathy, Myofibrillar, 3

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.17 TTN TRIM32 TCAP SYNC PLEC MYPN
2 sarcomere GO:0030017 9.58 TTN TCAP MYPN
3 sarcolemma GO:0042383 9.56 SYNC PLEC MYOT FLNC FKRP DYSF
4 T-tubule GO:0030315 9.54 DYSF CAV3 CAPN3
5 pseudopodium GO:0031143 9.48 MYOZ1 LDB3
6 dystrophin-associated glycoprotein complex GO:0016010 9.46 DMD CAV3
7 sarcoplasm GO:0016528 9.43 PLEC FLNC
8 I band GO:0031674 9.43 TTN TCAP MYPN
9 Z disc GO:0030018 9.4 TTN TCAP SYNC MYPN MYOZ1 MYOT
10 costamere GO:0043034 9.33 PLEC FLNC DMD

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.77 DMD CAV3 CAPN3
2 regulation of catalytic activity GO:0050790 9.73 TTN CAPN3 BAG3
3 skeletal muscle tissue regeneration GO:0043403 9.63 DYSF DMD
4 plasma membrane organization GO:0007009 9.63 DYSF CAV3
5 cardiac muscle contraction GO:0060048 9.63 TTN TCAP DMD
6 positive regulation of proteolysis GO:0045862 9.62 TRIM32 CAPN3
7 response to muscle stretch GO:0035994 9.62 TCAP DMD
8 muscle contraction GO:0006936 9.62 TTN MYOT DYSF CAV3
9 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN TCAP
10 cardiac myofibril assembly GO:0055003 9.61 TTN TCAP
11 myofibril assembly GO:0030239 9.6 MYOZ1 CAPN3
12 plasma membrane repair GO:0001778 9.58 DYSF CAV3
13 cardiac muscle fiber development GO:0048739 9.58 TTN TCAP
14 muscle filament sliding GO:0030049 9.58 TTN TCAP DMD
15 cardiac muscle hypertrophy GO:0003300 9.57 TTN TCAP
16 regulation of calcium ion import GO:0090279 9.55 DYSF CAV3
17 muscle structure development GO:0061061 9.54 LDB3 CAPN3
18 nucleus localization GO:0051647 9.52 DMD CAV3
19 T-tubule organization GO:0033292 9.51 DYSF CAV3
20 skeletal muscle thin filament assembly GO:0030240 9.49 TTN TCAP
21 skeletal muscle myosin thick filament assembly GO:0030241 9.48 TTN TCAP
22 regulation of skeletal muscle contraction GO:0014819 9.43 DMD CAV3
23 muscle fiber development GO:0048747 9.43 FLNC DYSF DMD
24 sarcomerogenesis GO:0048769 9.37 TTN TCAP
25 muscle cell cellular homeostasis GO:0046716 9.35 TRIM32 DMD CAV3 CAPN3 BAG3
26 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
27 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.56 PLEC MYPN LDB3 FLNC
2 actin binding GO:0003779 9.5 PLEC MYPN MYOZ1 MYOT LDB3 FLNC
3 myosin binding GO:0017022 9.49 TRIM32 DMD
4 ankyrin binding GO:0030506 9.48 PLEC FLNC
5 nitric-oxide synthase binding GO:0050998 9.46 DMD CAV3
6 titin binding GO:0031432 9.43 TCAP CAPN3
7 dystroglycan binding GO:0002162 9.4 FKRP DMD
8 telethonin binding GO:0031433 9.37 TTN MYOZ1
9 muscle alpha-actinin binding GO:0051371 9.33 TTN MYPN LDB3
10 FATZ binding GO:0051373 9.32 TCAP MYOZ1
11 structural constituent of muscle GO:0008307 9.1 TTN TCAP PLEC MYOT DMD CAPN3
Sources

Sources for Myopathy, Myofibrillar, 3

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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