LGMDR7
MCID: MSC174
MIFTS: 42

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMDR7)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 58 76
Lgmd2g 58 54 60 76 56
Muscular Dystrophy, Limb-Girdle, Type 2g 58 54 76 13
Limb-Girdle Muscular Dystrophy, Type 2g 54 30 6
Lgmdr7 58 76
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 60
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 60
Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g 58
Dystrophy, Muscular, Limb-Girdle, Type 2g 41
Limb-Girdle Muscular Dystrophy 2g 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years)
genetic heterogeneity, see lgmd2a
allelic disorder to dilated cardiomyopathy 1n (cmd1n, )


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 601954
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1866008
Orphanet 60 ORPHA34514
MedGen 43 C1866008

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34514Disease definitionA mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7, also known as lgmd2g, is related to autosomal recessive limb-girdle muscular dystrophy type 2g and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Related phenotypes are areflexia of lower limbs and rimmed vacuoles

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 7: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

Description from OMIM: 601954

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2g 32.2 CAPN3 DYSF MYOT TCAP
2 limb-girdle muscular dystrophy 28.4 CAPN3 DMD DYSF FKRP MYOT TCAP
3 muscular dystrophy 27.7 CAPN3 DMD DYSF FKRP MYOT TCAP
4 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 CAPN3 DYSF
5 localized lipodystrophy 10.1 DMD DYSF
6 creatine phosphokinase, elevated serum 10.1 DMD TCAP
7 dysferlinopathy 10.1 CAPN3 DYSF
8 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 DYSF FKRP
9 stormorken syndrome 10.0 DMD DYSF
10 paresthesia 10.0 CAPN3 FKRP
11 muscular dystrophy, becker type 10.0 DMD DYSF
12 myopathy, myofibrillar, 2 10.0 DMD MYOT
13 muscular dystrophy, congenital, 1b 10.0 DMD FKRP
14 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 DMD FKRP
15 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DMD FKRP
16 tibial muscular dystrophy 9.9 CAPN3 TTN
17 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 CAPN3 DMD DYSF
18 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 DMD TTN
19 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 DMD DYSF
20 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DMD FKRP
21 bethlem myopathy 1 9.9 CAPN3 DMD DYSF
22 myopathy, myofibrillar, 3 9.9 MYOT TTN
23 myopathy, congenital 9.9 DMD DYSF
24 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DMD FKRP
25 reducing body myopathy 9.8 DMD TTN
26 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 CAPN3 DYSF FKRP
27 myopathy, spheroid body 9.8 MYOT TTN
28 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 CAPN3 DMD FKRP
29 congenital fiber-type disproportion 9.7 DMD DYSF
30 centronuclear myopathy 9.7 DMD TTN
31 familial isolated dilated cardiomyopathy 9.7 DMD TCAP TTN
32 intrinsic cardiomyopathy 9.7 DMD TTN
33 left ventricular noncompaction 9.7 DMD TCAP TTN
34 rigid spine muscular dystrophy 1 9.7 DMD DYSF TTN
35 neuromuscular disease 9.6 DMD MYOT TTN
36 isolated hyperckemia 9.6 CAPN3 DMD FKRP TCAP
37 autosomal recessive limb-girdle muscular dystrophy type 2h 9.6 CAPN3 FKRP MYOT TRIM32
38 muscular dystrophy, congenital, lmna-related 9.5 DMD FKRP TTN
39 myofibrillar myopathy 9.4 DMD MYOT TCAP TTN
40 myopathy 9.4 CAPN3 DYSF MYOT TTN
41 myositis 9.4 CAPN3 DMD DYSF TTN
42 dilated cardiomyopathy 9.3 DMD FKRP TCAP TTN
43 autosomal recessive limb-girdle muscular dystrophy type 2j 9.3 CAPN3 FKRP MYOT TTN
44 atrial standstill 1 9.2 DMD FKRP MYOT TTN
45 muscle tissue disease 9.2 CAPN3 DMD DYSF FKRP MYOT
46 autosomal recessive limb-girdle muscular dystrophy 9.1 CAPN3 DMD DYSF FKRP TCAP TRIM32
47 miyoshi muscular dystrophy 9.1 CAPN3 DMD DYSF MYOT TTN
48 autosomal recessive limb-girdle muscular dystrophy type 2a 9.1 CAPN3 DYSF FKRP MYOT TTN
49 muscular dystrophy, limb-girdle, autosomal recessive 8 9.0 CAPN3 DYSF FKRP TCAP TRIM32 TTN
50 muscular dystrophy-dystroglycanopathy , type c, 5 9.0 CAPN3 DYSF FKRP TCAP TRIM32 TTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 33 HP:0002522
2 rimmed vacuoles 33 HP:0003805
3 proximal upper limb amyotrophy 33 HP:0008948
4 proximal muscle weakness in lower limbs 33 HP:0008994
5 proximal muscle weakness in upper limbs 33 HP:0008997
6 difficulty walking 33 HP:0002355
7 increased connective tissue 33 HP:0009025
8 increased variability in muscle fiber diameter 33 HP:0003557
9 foot dorsiflexor weakness 33 HP:0009027
10 distal lower limb muscle weakness 33 HP:0009053
11 muscular dystrophy 33 HP:0003560
12 difficulty climbing stairs 33 HP:0003551
13 difficulty running 33 HP:0009046
14 calf muscle hypertrophy 33 HP:0008981
15 distal lower limb amyotrophy 33 HP:0008944
16 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness in lower limbs
proximal muscle weakness in upper limbs
increased connective tissue
difficulty climbing stairs
more
Cardiovascular Heart:
cardiac muscle is involved in a subset of patients

Laboratory Abnormalities:
increased serum creatine kinase
creatine kinase levels may normalize with disease progression

Clinical features from OMIM:

601954

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 DMD DYSF FKRP TCAP TRIM32 TTN
2 homeostasis/metabolism MP:0005376 9.7 CAPN3 DMD DYSF FKRP TCAP TRIM32
3 muscle MP:0005369 9.5 CAPN3 DMD DYSF FKRP TCAP TRIM32
4 normal MP:0002873 9.02 CAPN3 DMD FKRP MYOT TTN

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2g 30 TCAP

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

# Title Authors Year
1
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. ( 28666572 )
2017
2
Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. ( 29074295 )
2017
3
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. ( 25298746 )
2014
4
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. ( 10655062 )
2000
5
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. ( 10069710 )
1999

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh37 Chromosome 17, 37822015: 37822015
2 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh38 Chromosome 17, 39665762: 39665762
3 TCAP NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs) deletion Pathogenic rs786205076 GRCh37 Chromosome 17, 37821721: 37821722
4 TCAP NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs) deletion Pathogenic rs786205076 GRCh38 Chromosome 17, 39665468: 39665469
5 TCAP NM_003673.3(TCAP): c.458G> A (p.Arg153His) single nucleotide variant Uncertain significance rs149585781 GRCh37 Chromosome 17, 37822316: 37822316
6 TCAP NM_003673.3(TCAP): c.458G> A (p.Arg153His) single nucleotide variant Uncertain significance rs149585781 GRCh38 Chromosome 17, 39666063: 39666063
7 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
8 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh38 Chromosome 17, 39665391: 39665391
9 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh38 Chromosome 17, 39665718: 39665718
10 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh37 Chromosome 17, 37821971: 37821971
11 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh37 Chromosome 17, 37821636: 37821637
12 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh38 Chromosome 17, 39665383: 39665384
13 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh37 Chromosome 17, 37821655: 37821661
14 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh38 Chromosome 17, 39665402: 39665408
15 TCAP NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs) duplication Likely pathogenic rs1555606959 GRCh38 Chromosome 17, 39665393: 39665393
16 TCAP NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs) duplication Likely pathogenic rs1555606959 GRCh37 Chromosome 17, 37821646: 37821646

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.4 TCAP TTN
2 myofibril GO:0030016 9.37 CAPN3 DMD
3 T-tubule GO:0030315 9.32 CAPN3 DYSF
4 I band GO:0031674 9.26 TCAP TTN
5 sarcolemma GO:0042383 9.26 DMD DYSF FKRP MYOT
6 Z disc GO:0030018 9.02 CAPN3 DMD MYOT TCAP TTN
7 dystrophin-associated glycoprotein complex GO:0016010 8.85 DMD

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.59 CAPN3 TTN
2 fat cell differentiation GO:0045444 9.58 DYSF TRIM32
3 response to calcium ion GO:0051592 9.58 CAPN3 TTN
4 muscle contraction GO:0006936 9.58 DYSF MYOT TTN
5 skeletal muscle tissue regeneration GO:0043403 9.57 DMD DYSF
6 cardiac muscle tissue morphogenesis GO:0055008 9.56 TCAP TTN
7 cardiac myofibril assembly GO:0055003 9.55 TCAP TTN
8 positive regulation of proteolysis GO:0045862 9.54 CAPN3 TRIM32
9 cardiac muscle fiber development GO:0048739 9.52 TCAP TTN
10 response to muscle stretch GO:0035994 9.51 DMD TCAP
11 skeletal muscle thin filament assembly GO:0030240 9.49 TCAP TTN
12 muscle fiber development GO:0048747 9.48 DMD DYSF
13 cardiac muscle hypertrophy GO:0003300 9.46 TCAP TTN
14 skeletal muscle myosin thick filament assembly GO:0030241 9.43 TCAP TTN
15 cardiac muscle contraction GO:0060048 9.43 DMD TCAP TTN
16 detection of muscle stretch GO:0035995 9.37 TCAP TTN
17 sarcomere organization GO:0045214 9.33 CAPN3 TCAP TTN
18 sarcomerogenesis GO:0048769 9.32 TCAP TTN
19 muscle filament sliding GO:0030049 9.13 DMD TCAP TTN
20 muscle cell cellular homeostasis GO:0046716 8.8 CAPN3 DMD TRIM32

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.32 TRIM32 TTN
2 myosin binding GO:0017022 9.26 DMD TRIM32
3 titin binding GO:0031432 9.16 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 9.02 CAPN3 DMD MYOT TCAP TTN
5 dystroglycan binding GO:0002162 8.96 DMD FKRP

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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