MCID: MYP078
MIFTS: 36

Myopathy, Myofibrillar, 3

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

Aliases & Classifications for Myopathy, Myofibrillar, 3

MalaCards integrated aliases for Myopathy, Myofibrillar, 3:

Name: Myopathy, Myofibrillar, 3 53 71 69
Myotilinopathy 53 12 71 28 13 69
Myofibrillar Myopathy 3 12 14
Mfm3 53 71
Myopathy, Myofibrillar, Myotilin-Related 53
Myopathy Myofibrillar Myotylin-Related 71
Distal Myotilinopathy 55
Mfm Myotilin-Related 71

Characteristics:

OMIM:

53
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:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 3

UniProtKB/Swiss-Prot : 71 Myopathy, myofibrillar, 3: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc 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, and has symptoms including myalgia, elevated serum creatine phosphokinase and cardiomyopathy. An important gene associated with Myopathy, Myofibrillar, 3 is MYOT (Myotilin). Affiliated tissues include skeletal muscle.

OMIM : 53 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 27)
# Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 30.7 FLNC LDB3 MYOT TTN
2 myopathy 28.0 DNAJB6 FLNC LDB3 MYOT TTN
3 myopathy, myofibrillar, 4 10.1 LDB3 MYOT
4 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 LDB3 TTN
5 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 LDB3 TTN
6 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 LDB3 TTN
7 muscular dystrophy, limb-girdle, type 2b 10.1 MYOT TTN
8 myopathy, myofibrillar, 1 10.1 LDB3 MYOT
9 distal muscular dystrophy 10.1 MYOT TTN
10 muscular dystrophy, limb-girdle, type 1a 10.0 FLNC MYOT
11 familial isolated dilated cardiomyopathy 9.9 LDB3 TTN
12 muscular dystrophy, limb-girdle, type 1h 9.9 DNAJB6 MYOT
13 neuronitis 9.9
14 autosomal dominant limb-girdle muscular dystrophy type 1g 9.9 DNAJB6 MYOT
15 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 DNAJB6 MYOT
16 muscular dystrophy, limb-girdle, type 1f 9.9 DNAJB6 MYOT
17 muscular dystrophy, limb-girdle, type 1e 9.8 DNAJB6 MYOT
18 muscular dystrophy, limb-girdle, type 2j 9.8 LDB3 MYOT TTN
19 restrictive cardiomyopathy 9.8 FLNC TTN
20 left ventricular noncompaction 9.8 LDB3 TTN
21 myopathy, myofibrillar, 2 9.7 FLNC LDB3 MYOT
22 arrhythmogenic right ventricular cardiomyopathy 9.6 LDB3 TTN
23 muscular dystrophy, limb-girdle, type 2a 9.6 DNAJB6 MYOT TTN
24 limb-girdle muscular dystrophy 9.6 DNAJB6 MYOT TTN
25 autosomal dominant limb-girdle muscular dystrophy 9.5 DNAJB6 FLNC MYOT
26 muscular dystrophy 9.4 DNAJB6 MYOT TTN
27 myopathy, spheroid body 8.8 DNAJB6 FLNC LDB3 MYOT TTN

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



Diseases related to Myopathy, Myofibrillar, 3

Symptoms & Phenotypes for Myopathy, Myofibrillar, 3

Symptoms via clinical synopsis from OMIM:

53
NeurologicPeripheralNervousSystem:
peripheral neuropathy
hyporeflexia/areflexia in lower limbs

LaboratoryAbnormalities:
increased serum creatine kinase

MuscleSoftTissue:
muscle atrophy, distal
proximal muscle involvement may occur
muscle weakness, distal, progressive
muscle stiffness or aching
emg shows myopathic and neurogenic changes
more
CardiovascularHeart:
cardiomyopathy

SkeletalFeet:
achilles tendon contractures


Clinical features from OMIM:

609200

Human phenotypes related to Myopathy, Myofibrillar, 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 myalgia 31 HP:0003326
2 elevated serum creatine phosphokinase 31 HP:0003236
3 cardiomyopathy 31 HP:0001638
4 areflexia 31 HP:0001284
5 polyneuropathy 31 HP:0001271
6 myofibrillar myopathy 31 HP:0003715
7 proximal muscle weakness 31 HP:0003701
8 distal amyotrophy 31 HP:0003693
9 muscle stiffness 31 HP:0003552
10 achilles tendon contracture 31 HP:0001771
11 hyporeflexia of lower limbs 31 HP:0002600
12 progressive distal muscle weakness 31 HP:0009063
13 muscle fiber cytoplasmatic inclusion bodies 31 HP:0100303

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 Myotilinopathy 28 MYOT

Anatomical Context for Myopathy, Myofibrillar, 3

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

38
Skeletal Muscle

Publications for Myopathy, Myofibrillar, 3

Articles related to Myopathy, Myofibrillar, 3:

# Title Authors Year
1
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. ( 21361873 )
2011
2
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? ( 19027924 )
2009
3
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. ( 18648820 )
2008
4
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. ( 17931355 )
2008
5
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. ( 17823282 )
2007
6
Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. ( 17882015 )
2007
7
Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation. ( 17784878 )
2007
8
Myotilinopathy in a family with late onset myopathy. ( 16793270 )
2006
9
Different early pathogenesis in myotilinopathy compared to primary desminopathy. ( 16684602 )
2006
10
Myotilinopathy: refining the clinical and myopathological phenotype. ( 15947064 )
2005

Variations for Myopathy, Myofibrillar, 3

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

71
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser55Phe VAR_021569
2 MYOT p.Ser60Cys VAR_021571
3 MYOT p.Ser60Phe VAR_021572
4 MYOT p.Ser95Ile VAR_021573

ClinVar genetic disease variations for Myopathy, Myofibrillar, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
2 MYOT NM_006790.2(MYOT): c.179C> G (p.Ser60Cys) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
3 MYOT NM_006790.2(MYOT): c.179C> T (p.Ser60Phe) single nucleotide variant Pathogenic rs121908458 GRCh37 Chromosome 5, 137206519: 137206519
4 MYOT NM_006790.2(MYOT): c.284G> T (p.Ser95Ile) single nucleotide variant Pathogenic rs121908460 GRCh37 Chromosome 5, 137206624: 137206624

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 Z disc GO:0030018 9.02 DNAJB6 FLNC LDB3 MYOT TTN
2 sarcolemma GO:0042383 8.96 FLNC MYOT

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 MYOT TTN
2 sarcomere organization GO:0045214 8.62 LDB3 TTN

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 FLNC TTN
2 cytoskeletal protein binding GO:0008092 9.16 FLNC LDB3
3 structural constituent of muscle GO:0008307 8.96 MYOT TTN
4 muscle alpha-actinin binding GO:0051371 8.62 LDB3 TTN

Sources for Myopathy, Myofibrillar, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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