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 56 73
Lgmd2g 56 52 58 73 54
Muscular Dystrophy, Limb-Girdle, Type 2g 56 52 73 13
Limb-Girdle Muscular Dystrophy, Type 2g 52 29 6
Lgmdr7 56 73
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 58
Telethonin-Related Limb-Girdle Muscular Dystrophy R7 58
Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g 56
Dystrophy, Muscular, Limb-Girdle, Type 2g 39
Limb-Girdle Muscular Dystrophy 2g 73

Characteristics:

Orphanet epidemiological data:

58
telethonin-related limb-girdle muscular dystrophy r7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

56
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:

31
muscular dystrophy, limb-girdle, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 601954
OMIM Phenotypic Series 56 PS253600
MeSH 43 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1866008
Orphanet 58 ORPHA34514
MedGen 41 C1866008

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition 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 hypertrophic cardiomyopathy. 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. Affiliated tissues include skeletal muscle, and related phenotypes are areflexia of lower limbs and rimmed vacuoles

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 601954 PS253600

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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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 85)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2g 30.0 TTN TRIM32 TCAP MYOT FKRP DYSF
2 hypertrophic cardiomyopathy 29.7 TTN TCAP DMD
3 muscular dystrophy, duchenne type 29.3 TTN TCAP DMD
4 muscular dystrophy, congenital, lmna-related 29.1 TTN FKRP DYSF DMD
5 limb-girdle muscular dystrophy 29.1 TTN TRIM32 TCAP MYOT FKRP DYSF
6 muscular dystrophy, limb-girdle, autosomal recessive 8 28.0 TTN TRIM32 TCAP FKRP DYSF CAPN3
7 myopathy 27.4 TTN TRIM32 TCAP MYOT FKRP DYSF
8 muscular dystrophy, limb-girdle, autosomal recessive 6 27.4 TTN TRIM32 TCAP FKRP DYSF DMD
9 muscular dystrophy 27.0 TTN TRIM32 TCAP MYOT FKRP DYSF
10 autosomal recessive limb-girdle muscular dystrophy 26.8 TTN TRIM32 TCAP MYOT FKRP DYSF
11 muscular dystrophy, limb-girdle, autosomal recessive 2 26.8 TTN TRIM32 TCAP MYOT FKRP DYSF
12 foot drop 10.4
13 isolated elevated serum creatine phosphokinase levels 10.1 TCAP DMD
14 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
15 muscular dystrophy, limb-girdle, autosomal recessive 5 10.1
16 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
17 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
18 muscle hypertrophy 10.1
19 qualitative or quantitative defects of sarcoglycan 10.1
20 dysferlinopathy 10.1 DYSF CAPN3
21 localized lipodystrophy 10.1 DYSF DMD
22 creatine phosphokinase, elevated serum 10.1 TCAP DMD
23 miyoshi muscular dystrophy 3 10.1 DYSF CAPN3
24 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 MYOT DYSF
25 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 MYOT DYSF
26 cardiomyopathy, dilated, 3b 10.0 DYSF DMD
27 autosomal dominant distal myopathy 10.0 MYOT DMD
28 paresthesia 10.0 FKRP CAPN3
29 rippling muscle disease 2 9.9 FKRP DYSF
30 stormorken syndrome 9.9 DYSF DMD
31 autosomal dominant limb-girdle muscular dystrophy 9.9 MYOT CAPN3
32 myopathy of extraocular muscle 9.9 MYOT DMD
33 myopathy, spheroid body 9.9 TRIM32 TCAP MYOT
34 cobblestone lissencephaly 9.9 FKRP DMD
35 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 TCAP MYOT DYSF
36 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 FKRP DMD
37 cardioneuromyopathy with hyaline masses and nemaline rods 9.8 TTN DMD
38 myopathy, myofibrillar, 5 9.7 TTN MYOT
39 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 TRIM32 MYOT FKRP
40 muscular dystrophy, congenital merosin-deficient, 1a 9.6 FKRP DYSF DMD
41 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 FKRP DYSF DMD
42 polyglucosan body myopathy 1 with or without immunodeficiency 9.6 FKRP DMD CAPN3
43 congenital structural myopathy 9.6 TTN MYOT
44 glycogen storage disease ii 9.5 FKRP DMD
45 familial isolated dilated cardiomyopathy 9.5 TTN TCAP DMD
46 intrinsic cardiomyopathy 9.5 TTN TCAP DMD
47 myopathy, congenital 9.4 TTN DYSF DMD
48 centronuclear myopathy 9.4 TTN DYSF DMD
49 myopathy, myofibrillar, 1 9.4 TTN MYOT DMD
50 brugada syndrome 9.3 TTN TCAP DMD

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 31 HP:0002522
2 rimmed vacuoles 31 HP:0003805
3 proximal upper limb amyotrophy 31 HP:0008948
4 proximal muscle weakness in lower limbs 31 HP:0008994
5 proximal muscle weakness in upper limbs 31 HP:0008997
6 difficulty walking 31 HP:0002355
7 muscular dystrophy 31 HP:0003560
8 increased connective tissue 31 HP:0009025
9 increased variability in muscle fiber diameter 31 HP:0003557
10 foot dorsiflexor weakness 31 HP:0009027
11 distal lower limb muscle weakness 31 HP:0009053
12 difficulty climbing stairs 31 HP:0003551
13 difficulty running 31 HP:0009046
14 calf muscle hypertrophy 31 HP:0008981
15 distal lower limb amyotrophy 31 HP:0008944
16 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CAPN3 DMD DYSF FKRP TCAP TRIM32
2 muscle MP:0005369 9.5 CAPN3 DMD DYSF FKRP TCAP TRIM32
3 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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

40
Skeletal Muscle

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

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

(show all 27)
# Title Authors PMID Year
1
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 56 6
10655062 2000
2
Functional muscle analysis of the Tcap knockout mouse. 54 61 56
20233748 2010
3
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 54 61 56
19679566 2009
4
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. 61 56
9245996 1997
5
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
6
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. 54 61
18948002 2008
7
TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells. 54 61
18440815 2008
8
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
9
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 54 61
14959561 2003
10
Telethonin protein expression in neuromuscular disorders. 54 61
12379311 2002
11
Dysferlin protein analysis in limb-girdle muscular dystrophies. 54 61
11665864 2001
12
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 54 61
10069710 1999
13
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 61
31268554 2019
14
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. 61
30944467 2019
15
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 61
29935994 2018
16
Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. 61
29074295 2017
17
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. 61
28666572 2017
18
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 61
26060040 2016
19
A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India. 61
26238890 2015
20
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. 61
25724973 2015
21
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
22
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. 61
25055047 2014
23
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. 61
25298746 2014
24
Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. 61
23479141 2013
25
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. 61
23414517 2013
26
Transcriptional analysis of the titin cap gene. 61
21305318 2011
27
[LGMD2G]. 61
11556000 2001

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCAP NM_003673.3(TCAP):c.110_110+1deldeletion Pathogenic 5526 rs786205076 17:37821720-37821721 17:39665467-39665468
2 TCAP NM_003673.3(TCAP):c.32C>A (p.Ser11Ter)SNV Likely pathogenic 140582 rs45495192 17:37821644-37821644 17:39665391-39665391
3 TCAP NM_003673.3(TCAP):c.34dup (p.Glu12fs)duplication Likely pathogenic 522598 rs1555606959 17:37821644-37821645 17:39665391-39665392
4 TCAP NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter)duplication Likely pathogenic 217014 rs863224933 17:37821636-37821637 17:39665383-39665384
5 TCAP NM_003673.3(TCAP):c.157C>T (p.Gln53Ter)SNV Likely pathogenic 5525 rs104894655 17:37822015-37822015 17:39665762-39665762
6 TCAP NM_003673.3(TCAP):c.458G>A (p.Arg153His)SNV Conflicting interpretations of pathogenicity 44710 rs149585781 17:37822316-37822316 17:39666063-39666063
7 TCAP NM_003673.3(TCAP):c.421C>G (p.Pro141Ala)SNV Uncertain significance 180535 rs45509691 17:37822279-37822279 17:39666026-39666026
8 TCAP NM_003673.3(TCAP):c.113G>T (p.Cys38Phe)SNV Uncertain significance 202108 rs375310569 17:37821971-37821971 17:39665718-39665718

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 9.37 TTN TCAP
2 T-tubule GO:0030315 9.32 DYSF CAPN3
3 myofibril GO:0030016 9.26 DMD CAPN3
4 sarcolemma GO:0042383 9.26 MYOT FKRP DYSF DMD
5 I band GO:0031674 9.16 TTN TCAP
6 Z disc GO:0030018 9.02 TTN TCAP MYOT DMD CAPN3

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 muscle contraction GO:0006936 9.63 TTN MYOT DYSF
2 regulation of catalytic activity GO:0050790 9.59 TTN CAPN3
3 fat cell differentiation GO:0045444 9.58 TRIM32 DYSF
4 response to calcium ion GO:0051592 9.58 TTN CAPN3
5 skeletal muscle tissue regeneration GO:0043403 9.57 DYSF DMD
6 positive regulation of proteolysis GO:0045862 9.56 TRIM32 CAPN3
7 muscle fiber development GO:0048747 9.55 DYSF DMD
8 response to muscle stretch GO:0035994 9.54 TCAP DMD
9 cardiac myofibril assembly GO:0055003 9.52 TTN TCAP
10 cardiac muscle tissue morphogenesis GO:0055008 9.51 TTN TCAP
11 cardiac muscle fiber development GO:0048739 9.49 TTN TCAP
12 cardiac muscle hypertrophy GO:0003300 9.48 TTN TCAP
13 skeletal muscle thin filament assembly GO:0030240 9.43 TTN TCAP
14 cardiac muscle contraction GO:0060048 9.43 TTN TCAP DMD
15 skeletal muscle myosin thick filament assembly GO:0030241 9.4 TTN TCAP
16 detection of muscle stretch GO:0035995 9.37 TTN TCAP
17 sarcomere organization GO:0045214 9.33 TTN TCAP CAPN3
18 sarcomerogenesis GO:0048769 9.32 TTN TCAP
19 muscle filament sliding GO:0030049 9.13 TTN TCAP DMD
20 muscle cell cellular homeostasis GO:0046716 8.8 TRIM32 DMD CAPN3

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 TTN TRIM32
2 myosin binding GO:0017022 9.26 TRIM32 DMD
3 titin binding GO:0031432 9.16 TCAP CAPN3
4 structural constituent of muscle GO:0008307 9.02 TTN TCAP MYOT DMD CAPN3
5 dystroglycan binding GO:0002162 8.96 FKRP DMD

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

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
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