LGMD2G
MCID: MSC174
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMD2G)

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 57
Lgmd2g 57 53 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2g 57 53 13
Limb-Girdle Muscular Dystrophy, Type 2g 53 29 6
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 59
Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g 57
Dystrophy, Muscular, Limb-Girdle, Type 2g 40
Limb-Girdle Muscular Dystrophy 2g 75
Lgmdr7 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

57
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:

32
muscular dystrophy, limb-girdle, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601954
Orphanet 59 ORPHA34514
UMLS via Orphanet 74 C1866008
ICD10 via Orphanet 34 G71.0
MedGen 42 C1866008
MeSH 44 D049288

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34514Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a 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 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 elevated serum creatine phosphokinase and areflexia of lower limbs

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2G: 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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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 55)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2g 32.3 CAPN3 DYSF MYOT TCAP
2 muscular dystrophy 29.3 CAPN3 DMD DYSF FKRP MYOT TCAP
3 limb-girdle muscular dystrophy 29.3 CAPN3 DMD DYSF FKRP MYOT TCAP
4 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 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 10.0 DYSF FKRP
9 paresthesia 10.0 CAPN3 FKRP
10 stormorken syndrome 10.0 DMD DYSF
11 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 DYSF FKRP
12 muscular dystrophy, becker type 10.0 DMD DYSF
13 myopathy, myofibrillar, 2 10.0 DMD MYOT
14 muscular dystrophy, congenital, 1b 10.0 DMD FKRP
15 muscular dystrophy-dystroglycanopathy , type a, 1 10.0 DMD FKRP
16 tibial muscular dystrophy 9.9 CAPN3 TTN
17 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DMD FKRP
18 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 CAPN3 DMD DYSF
19 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 DMD TTN
20 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 DMD DYSF
21 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DMD FKRP
22 bethlem myopathy 1 9.9 CAPN3 DMD DYSF
23 myopathy, myofibrillar, 3 9.9 MYOT TTN
24 myopathy, congenital 9.9 DMD DYSF
25 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DMD FKRP
26 reducing body myopathy 9.9 DMD TTN
27 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 CAPN3 DYSF FKRP
28 myopathy, spheroid body 9.9 MYOT TTN
29 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 DMD FKRP
30 congenital fiber-type disproportion 9.8 DMD DYSF
31 centronuclear myopathy 9.8 DMD TTN
32 familial isolated dilated cardiomyopathy 9.8 DMD TCAP TTN
33 intrinsic cardiomyopathy 9.8 DMD TTN
34 left ventricular noncompaction 9.8 DMD TCAP TTN
35 rigid spine muscular dystrophy 1 9.8 DMD DYSF TTN
36 neuromuscular disease 9.7 DMD MYOT TTN
37 isolated hyperckemia 9.7 CAPN3 DMD FKRP TCAP
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAPN3 FKRP MYOT TRIM32
39 autosomal dominant limb-girdle muscular dystrophy type 1a 9.7 CAPN3 FKRP MYOT TRIM32
40 muscular dystrophy, congenital, lmna-related 9.7 DMD FKRP TTN
41 myofibrillar myopathy 9.6 DMD MYOT TCAP TTN
42 myopathy 9.6 CAPN3 DYSF MYOT TTN
43 myositis 9.6 CAPN3 DMD DYSF TTN
44 dilated cardiomyopathy 9.6 DMD FKRP TCAP TTN
45 autosomal recessive limb-girdle muscular dystrophy type 2j 9.6 CAPN3 FKRP MYOT TTN
46 atrial standstill 1 9.5 DMD FKRP MYOT TTN
47 muscle tissue disease 9.5 CAPN3 DMD DYSF FKRP MYOT
48 autosomal recessive limb-girdle muscular dystrophy 9.4 CAPN3 DMD DYSF FKRP TCAP TRIM32
49 miyoshi muscular dystrophy 9.4 CAPN3 DMD DYSF MYOT TTN
50 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 CAPN3 DYSF FKRP MYOT 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 areflexia of lower limbs 32 HP:0002522
3 rimmed vacuoles 32 HP:0003805
4 proximal upper limb amyotrophy 32 HP:0008948
5 proximal muscle weakness in lower limbs 32 HP:0008994
6 proximal muscle weakness in upper limbs 32 HP:0008997
7 difficulty walking 32 HP:0002355
8 muscular dystrophy 32 HP:0003560
9 increased connective tissue 32 HP:0009025
10 increased variability in muscle fiber diameter 32 HP:0003557
11 foot dorsiflexor weakness 32 HP:0009027
12 distal lower limb muscle weakness 32 HP:0009053
13 difficulty climbing stairs 32 HP:0003551
14 difficulty running 32 HP:0009046
15 calf muscle hypertrophy 32 HP:0008981
16 distal lower limb amyotrophy 32 HP:0008944

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

46
# 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

Search Clinical Trials , 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 29 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
Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. ( 29074295 )
2017
2
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. ( 25298746 )
2014
3
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. ( 10655062 )
2000

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.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
6 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh38 Chromosome 17, 39665391: 39665391
7 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh38 Chromosome 17, 39665718: 39665718
8 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh37 Chromosome 17, 37821971: 37821971
9 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh37 Chromosome 17, 37821636: 37821637
10 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh38 Chromosome 17, 39665383: 39665384
11 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh37 Chromosome 17, 37821715: 37821715
12 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh38 Chromosome 17, 39665462: 39665462
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 GRCh38 Chromosome 17, 39665393: 39665393
16 TCAP NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs) duplication Likely pathogenic 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 dystrophin-associated glycoprotein complex GO:0016010 9.16 DMD FKRP
7 Z disc GO:0030018 9.02 CAPN3 DMD MYOT TCAP TTN

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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