MFM3
MCID: MYP078
MIFTS: 44

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 57 74 72
Myotilinopathy 57 12 74 13 72
Myofibrillar Myopathy 3 12 29 6 15
Lgmd1a 59 74 55
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 12 59
Mfm3 57 74
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly; Lgmd1a, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly; Lgmd1, Formerly 57
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency 59
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly 57
Myopathy, Myofibrillar, Myotilin-Related 57
Muscular Dystrophy, Limb-Girdle, Type 1a 74
Muscular Dystrophy, Limb-Girdle, Type 1 74
Myopathy Myofibrillar Myotylin-Related 74
Limb-Girdle Muscular Dystrophy 1a 74
Myopathy, Myofibrillar, Type 3 40
Distal Myotilinopathy 59
Mfm Myotilin-Related 74
Lgmd1a, Formerly 57
Lgmd1, Formerly 57
Lgmd1 74

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
myopathy, myofibrillar, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080094
MeSH 44 D020914
ICD10 33 G71.0
ICD10 via Orphanet 34 G71.0 G71.8
UMLS via Orphanet 73 C1834659
UMLS 72 C1836607 C3714934

Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 74 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 myofibrillar myopathy and myopathy, myofibrillar, 1. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are peripheral neuropathy and difficulty walking

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

OMIM : 57 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 all 43)
# Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 31.6 TTN TCAP MYOT FLNC
2 myopathy, myofibrillar, 1 30.6 MYOT FLNC
3 myopathy, myofibrillar, 2 30.6 MYOT FLNC
4 autosomal dominant limb-girdle muscular dystrophy 30.5 MYOT FLNC
5 tibial muscular dystrophy 30.0 TTN CAPN3
6 myopathy, spheroid body 29.7 TTN MYOT FLNC
7 myopathy 29.7 TTN MYOT FLNC CAPN3
8 miyoshi muscular dystrophy 29.7 TTN MYOT CAPN3
9 limb-girdle muscular dystrophy 27.5 TTN TRIM32 TCAP MYOT FLNC CAPN3
10 muscular dystrophy 27.3 TTN TRIM32 TCAP MYOT FLNC CAPN3
11 gne-related myopathy 10.3
12 respiratory failure 10.1
13 peripheral nervous system disease 10.1
14 neuropathy 10.1
15 limb-girdle muscular dystrophy type 1a 10.1
16 autosomal dominant distal myopathy 10.1
17 central core disease of muscle 10.1
18 leukemia, acute myeloid 10.1
19 leukemia 10.1
20 centronuclear myopathy 10.1
21 nemaline myopathy 10.1
22 central core myopathy 10.1
23 myeloid leukemia 10.1
24 familial isolated dilated cardiomyopathy 9.9 TTN TCAP
25 restrictive cardiomyopathy 9.9 TTN FLNC
26 neuromuscular disease 9.9 TTN MYOT
27 isolated hyperckemia 9.9 TCAP CAPN3
28 muscle tissue disease 9.9 MYOT CAPN3
29 atrial standstill 1 9.8 TTN MYOT
30 myositis 9.7 TTN CAPN3
31 autosomal recessive limb-girdle muscular dystrophy type 2j 9.6 TTN MYOT CAPN3
32 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 TCAP MYOT CAPN3
33 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 TTN MYOT CAPN3
34 dilated cardiomyopathy 9.5 TTN TCAP FLNC
35 left ventricular noncompaction 9.5 TTN TCAP
36 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 TRIM32 MYOT CAPN3
37 autosomal recessive limb-girdle muscular dystrophy 9.2 TRIM32 TCAP CAPN3
38 muscular dystrophy, limb-girdle, autosomal recessive 8 8.8 TTN TRIM32 TCAP CAPN3
39 muscular dystrophy-dystroglycanopathy , type c, 5 8.7 TTN TRIM32 TCAP CAPN3
40 muscular dystrophy, limb-girdle, autosomal recessive 6 8.7 TTN TRIM32 TCAP CAPN3
41 muscular disease 8.4 TTN TRIM32 MYOT FLNC CAPN3
42 muscular dystrophy, limb-girdle, autosomal recessive 7 8.4 TTN TRIM32 TCAP MYOT CAPN3
43 muscular dystrophy, limb-girdle, autosomal recessive 2 8.4 TTN TRIM32 TCAP MYOT CAPN3

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:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
2 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
3 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
4 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
5 shoulder girdle muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003547
6 progressive distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009063
7 abnormal muscle fiber myotilin 59 32 hallmark (90%) Very frequent (99-80%) HP:0030226
8 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
9 inability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0002540
10 emg: myopathic abnormalities 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003458
11 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
12 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
13 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
14 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
15 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
16 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
17 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
18 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
19 increased endomysial connective tissue 59 32 frequent (33%) Frequent (79-30%) HP:0100297
20 limited elbow flexion 59 32 frequent (33%) Frequent (79-30%) HP:0006376
21 difficulty standing 59 32 frequent (33%) Frequent (79-30%) HP:0003698
22 fatty replacement of skeletal muscle 59 32 frequent (33%) Frequent (79-30%) HP:0012548
23 autophagic vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003736
24 limited knee flexion/extension 59 32 frequent (33%) Frequent (79-30%) HP:0005085
25 hip flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0012515
26 loss of ability to walk in first decade 59 32 frequent (33%) Frequent (79-30%) HP:0006794
27 elevated serum creatine kinase 32 frequent (33%) HP:0003236
28 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
29 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
30 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
31 reduced vital capacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002792
32 progressive proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009073
33 facial hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000297
34 reduced maximal inspiratory pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0012496
35 respiratory insufficiency 59 Occasional (29-5%)
36 elevated serum creatine phosphokinase 59 Frequent (79-30%),Frequent (79-30%)
37 areflexia 32 HP:0001284
38 myalgia 32 HP:0003326
39 achilles tendon contracture 32 HP:0001771
40 pelvic girdle muscle weakness 59 Very frequent (99-80%)
41 functional respiratory abnormality 59 Occasional (29-5%)
42 polyneuropathy 32 HP:0001271
43 myofibrillar myopathy 32 HP:0003715
44 hyporeflexia of lower limbs 32 HP:0002600
45 muscle fiber cytoplasmatic inclusion bodies 32 HP:0100303

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 FLNC TCAP TRIM32 TTN

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 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

41
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 3

Articles related to Myopathy, Myofibrillar, 3:

(show all 49)
# Title Authors PMID Year
1
Mutations in myotilin cause myofibrillar myopathy. 38 8 71
15111675 2004
2
myotilin Mutation found in second pedigree with LGMD1A. 9 8 71
12428213 2002
3
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8 71
30055862 2018
4
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 8 71
21336781 2011
5
Myotilin is mutated in limb girdle muscular dystrophy 1A. 8 71
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. 71
25313375 2014
7
BAG3-related myofibrillar myopathy in a Chinese family. 71
21361913 2012
8
A mutation in myotilin causes spheroid body myopathy. 8
16380616 2005
9
Myofibrillar Myopathy 71
20301672 2005
10
Limb-Girdle Muscular Dystrophy Overview 71
20301582 2000
11
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. 8
9828127 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. 8
9529338 1998
13
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 8
9598725 1998
14
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 8
7881291 1994
15
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 8
1598902 1992
16
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 8
3275904 1988
17
Hereditary myopathy limited to females. 8
6053567 1967
18
Myotilinopathy: refining the clinical and myopathological phenotype. 9 38
15947064 2005
19
Myotilinopathy unmasked by statin treatment: A case report. 38
29350769 2018
20
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 38
28915917 2017
21
New aspects of myofibrillar myopathies. 38
27389816 2016
22
Myofibrillar and distal myopathies. 38
27638134 2016
23
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 38
27854214 2016
24
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 38
26842778 2016
25
In vivo characterization of mutant myotilins. 38
22349301 2012
26
Protein aggregation in congenital myopathies. 38
22172423 2011
27
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 38
21361873 2011
28
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 38
19225410 2009
29
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. 38
19151983 2009
30
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 38
19027924 2009
31
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. 38
18648820 2008
32
Distinct muscle imaging patterns in myofibrillar myopathies. 38
18765652 2008
33
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 9
18335471 2008
34
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 38
17698502 2008
35
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. 38
17931355 2008
36
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. 38
17823282 2007
37
Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. 38
17784878 2007
38
Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. 38
17882015 2007
39
Myotilin: a prominent marker of myofibrillar remodelling. 9
17056257 2007
40
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 9
16801328 2006
41
Myotilinopathy in a family with late onset myopathy. 38
16793270 2006
42
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 38
16684602 2006
43
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. 38
15978589 2005
44
Characterization of mouse myotilin and its promoter. 9
15752755 2005
45
Congenital myopathies in the new millennium. 38
15794172 2005
46
[Limb girdle muscular dystrophies]. 9
15316618 2004
47
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 9
12899871 2003
48
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 9
12499399 2003
49
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. 9
11335118 2001

Variations for Myopathy, Myofibrillar, 3

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 5:137206519-137206519 5:137870830-137870830
2 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 5:137206519-137206519 5:137870830-137870830
3 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 5:137206624-137206624 5:137870935-137870935
4 MYOT NM_006790.2(MYOT): c.170C> T (p.Thr57Ile) single nucleotide variant Pathogenic rs28937597 5:137206510-137206510 5:137870821-137870821
5 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 5:137206504-137206504 5:137870815-137870815
6 MYOT NM_006790.2(MYOT): c.683+8delA deletion Conflicting interpretations of pathogenicity rs760217241 5:137216562-137216562 5:137880873-137880873
7 MYOT NM_006790.2(MYOT): c.1401T> C (p.Asn467=) single nucleotide variant Conflicting interpretations of pathogenicity rs145427063 5:137222978-137222978 5:137887289-137887289
8 MYOT NM_006790.2(MYOT): c.1286C> G (p.Ala429Gly) single nucleotide variant Uncertain significance rs144731446 5:137222648-137222648 5:137886959-137886959
9 MYOT NM_006790.2(MYOT): c.1401T> A (p.Asn467Lys) single nucleotide variant Uncertain significance rs145427063 5:137222978-137222978 5:137887289-137887289
10 MYOT NM_006790.2(MYOT): c.145G> C (p.Glu49Gln) single nucleotide variant Uncertain significance 5:137206485-137206485 5:137870796-137870796
11 MYOT NM_006790.2(MYOT): c.1364G> A (p.Arg455Gln) single nucleotide variant Uncertain significance 5:137222941-137222941 5:137887252-137887252
12 MYOT NM_006790.2(MYOT): c.1364G> C (p.Arg455Pro) single nucleotide variant Uncertain significance 5:137222941-137222941 5:137887252-137887252
13 MYOT NM_006790.2(MYOT): c.1A> T (p.Met1Leu) single nucleotide variant Uncertain significance 5:137206341-137206341 5:137870652-137870652
14 MYOT NM_006790.2(MYOT): c.653C> A (p.Ala218Glu) single nucleotide variant Uncertain significance 5:137216524-137216524 5:137880835-137880835
15 MYOT NM_006790.2(MYOT): c.67C> T (p.Pro23Ser) single nucleotide variant Uncertain significance 5:137206407-137206407 5:137870718-137870718
16 MYOT NM_006790.2(MYOT): c.1139T> C (p.Leu380Pro) single nucleotide variant Uncertain significance 5:137221851-137221851 5:137886162-137886162
17 MYOT NM_006790.2(MYOT): c.1159G> A (p.Glu387Lys) single nucleotide variant Uncertain significance 5:137221871-137221871 5:137886182-137886182
18 MYOT NM_006790.2(MYOT): c.83C> T (p.Thr28Ile) single nucleotide variant Uncertain significance 5:137206423-137206423 5:137870734-137870734
19 MYOT NM_006790.2(MYOT): c.86C> T (p.Ser29Phe) single nucleotide variant Uncertain significance 5:137206426-137206426 5:137870737-137870737
20 MYOT NM_006790.2(MYOT): c.182A> C (p.His61Pro) single nucleotide variant Uncertain significance 5:137206522-137206522 5:137870833-137870833
21 MYOT NM_006790.2(MYOT): c.392C> A (p.Ala131Glu) single nucleotide variant Uncertain significance 5:137211553-137211553 5:137875864-137875864
22 MYOT NM_006790.2(MYOT): c.650A> G (p.His217Arg) single nucleotide variant Uncertain significance 5:137216521-137216521 5:137880832-137880832
23 MYOT NM_006790.2(MYOT): c.784G> C (p.Asp262His) single nucleotide variant Uncertain significance 5:137217762-137217762 5:137882073-137882073
24 MYOT NM_006790.2(MYOT): c.1195T> C (p.Tyr399His) single nucleotide variant Uncertain significance 5:137222557-137222557 5:137886868-137886868
25 MYOT NM_006790.2(MYOT): c.359A> G (p.Tyr120Cys) single nucleotide variant Uncertain significance rs141710153 5:137211520-137211520 5:137875831-137875831
26 MYOT NM_006790.2(MYOT): c.816+5G> T single nucleotide variant Uncertain significance rs750433300 5:137217799-137217799 5:137882110-137882110
27 MYOT NM_006790.2(MYOT): c.17G> A (p.Arg6His) single nucleotide variant Uncertain significance rs387906882 5:137206357-137206357 5:137870668-137870668
28 MYOT NM_006790.2(MYOT): c.98G> T (p.Ser33Ile) single nucleotide variant Uncertain significance rs1554102559 5:137206438-137206438 5:137870749-137870749
29 MYOT NM_006790.2(MYOT): c.372del (p.Ala125fs) deletion Uncertain significance rs781353247 5:137211533-137211533 5:137875844-137875844
30 MYOT NM_006790.2(MYOT): c.391G> T (p.Ala131Ser) single nucleotide variant Uncertain significance rs1554102961 5:137211552-137211552 5:137875863-137875863
31 MYOT NM_006790.2(MYOT): c.387A> G (p.Ile129Met) single nucleotide variant Uncertain significance rs1554102960 5:137211548-137211548 5:137875859-137875859
32 MYOT NM_006790.2(MYOT): c.1345C> G (p.Pro449Ala) single nucleotide variant Uncertain significance rs766650528 5:137222922-137222922 5:137887233-137887233
33 MYOT NM_006790.2(MYOT): c.1497A> T (p.Ter499Tyr) single nucleotide variant Uncertain significance rs779978043 5:137223074-137223074 5:137887385-137887385
34 MYOT NM_006790.2(MYOT): c.257C> A (p.Thr86Lys) single nucleotide variant Uncertain significance rs1205992276 5:137206597-137206597 5:137870908-137870908
35 MYOT NM_006790.2(MYOT): c.398C> T (p.Pro133Leu) single nucleotide variant Uncertain significance rs779568205 5:137211559-137211559 5:137875870-137875870
36 MYOT NM_006790.2(MYOT): c.937G> A (p.Val313Ile) single nucleotide variant Uncertain significance rs760955035 5:137219193-137219193 5:137883504-137883504
37 MYOT NM_006790.2(MYOT): c.1413G> T (p.Leu471Phe) single nucleotide variant Uncertain significance rs146426896 5:137222990-137222990 5:137887301-137887301
38 MYOT NM_006790.2(MYOT): c.563G> T (p.Arg188Ile) single nucleotide variant Uncertain significance rs370165036 5:137213240-137213240 5:137877551-137877551
39 MYOT NM_006790.2(MYOT): c.1439A> G (p.Glu480Gly) single nucleotide variant Uncertain significance rs727504026 5:137223016-137223016 5:137887327-137887327
40 MYOT NM_006790.2(MYOT): c.981T> C (p.Asn327=) single nucleotide variant Likely benign rs148479015 5:137219237-137219237 5:137883548-137883548
41 MYOT NM_006790.2(MYOT): c.445G> C (p.Glu149Gln) single nucleotide variant Likely benign rs71578935 5:137211606-137211606 5:137875917-137875917
42 MYOT NM_006790.2(MYOT): c.49T> C (p.Cys17Arg) single nucleotide variant Likely benign rs202005786 5:137206389-137206389 5:137870700-137870700
43 MYOT NM_006790.2(MYOT): c.999C> A (p.Thr333=) single nucleotide variant Likely benign rs1320608556 5:137219255-137219255 5:137883566-137883566
44 MYOT NM_006790.2(MYOT): c.471G> A (p.Leu157=) single nucleotide variant Likely benign rs762886873 5:137211632-137211632 5:137875943-137875943
45 MYOT NM_006790.2(MYOT): c.1275A> T (p.Ala425=) single nucleotide variant Likely benign rs140678912 5:137222637-137222637 5:137886948-137886948
46 MYOT NM_006790.2(MYOT): c.1404G> C (p.Gly468=) single nucleotide variant Likely benign rs200075800 5:137222981-137222981 5:137887292-137887292
47 MYOT NM_006790.2(MYOT): c.1190+7T> C single nucleotide variant Benign/Likely benign rs192405601 5:137221909-137221909 5:137886220-137886220
48 MYOT NM_006790.2(MYOT): c.343G> A (p.Ala115Thr) single nucleotide variant Benign/Likely benign rs114194130 5:137206683-137206683 5:137870994-137870994
49 MYOT NM_006790.2(MYOT): c.220C> A (p.Gln74Lys) single nucleotide variant Benign/Likely benign rs6890689 5:137206560-137206560 5:137870871-137870871
50 MYOT NM_006790.2(MYOT): c.617G> A (p.Gly206Asp) single nucleotide variant Benign/Likely benign rs151094883 5:137213294-137213294 5:137877605-137877605

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

74
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.48 TTN TCAP

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 9.8 TTN TRIM32 TCAP MYOT FLNC CAPN3
2 sarcolemma GO:0042383 9.26 MYOT FLNC
3 sarcomere GO:0030017 9.16 TTN TCAP
4 Z disc GO:0030018 9.02 TTN TCAP MYOT FLNC CAPN3
5 I band GO:0031674 8.96 TTN TCAP

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.58 TRIM32 CAPN3
2 protein-containing complex assembly GO:0065003 9.57 TCAP CAPN3
3 muscle contraction GO:0006936 9.56 TTN MYOT
4 regulation of catalytic activity GO:0050790 9.55 TTN CAPN3
5 response to calcium ion GO:0051592 9.54 TTN CAPN3
6 cardiac muscle contraction GO:0060048 9.52 TTN TCAP
7 muscle filament sliding GO:0030049 9.51 TTN TCAP
8 muscle cell cellular homeostasis GO:0046716 9.49 TRIM32 CAPN3
9 cardiac muscle tissue morphogenesis GO:0055008 9.48 TTN TCAP
10 positive regulation of proteolysis GO:0045862 9.46 TRIM32 CAPN3
11 cardiac myofibril assembly GO:0055003 9.43 TTN TCAP
12 cardiac muscle fiber development GO:0048739 9.4 TTN TCAP
13 skeletal muscle thin filament assembly GO:0030240 9.37 TTN TCAP
14 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
15 cardiac muscle hypertrophy GO:0003300 9.26 TTN TCAP
16 detection of muscle stretch GO:0035995 9.16 TTN TCAP
17 sarcomerogenesis GO:0048769 8.96 TTN TCAP
18 sarcomere organization GO:0045214 8.8 TTN TCAP CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TTN TRIM32
2 titin binding GO:0031432 8.96 TCAP CAPN3
3 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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