LGMDR4
MCID: MSC176
MIFTS: 34

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 (LGMDR4)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 57 74
Muscular Dystrophy, Limb-Girdle, Type 2e 57 74 13
Lgmd2e 57 59 74
Lgmdr4 57 74
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 59
Muscular Dystrophy, Limb-Girdle, Type 2e; Lgmd2e 57
Limb-Girdle Muscular Dystrophy 2e 74
Beta-Sarcoglycanopathy 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2e
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial variability
variable progression
onset in childhood (range 4 to 12 years)
most patients become wheelchair-bound in the second to fourth decades


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 4:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D049288
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1858593 C2930900
Orphanet 59 ORPHA119
MedGen 42 C1858593

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

UniProtKB/Swiss-Prot : 74 Muscular dystrophy, limb-girdle, autosomal recessive 4: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4, also known as muscular dystrophy, limb-girdle, type 2e, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy, limb-girdle, autosomal recessive 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 is SGCB (Sarcoglycan Beta). Affiliated tissues include skeletal muscle and heart, and related phenotypes are dilated cardiomyopathy and delayed speech and language development

More information from OMIM: 604286 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 11.8
2 muscular dystrophy, limb-girdle, autosomal recessive 1 11.4
3 muscular dystrophy 10.5
4 chromosomal triplication 10.4
5 maternal uniparental disomy 10.4
6 maternal uniparental disomy of chromosome 4 10.4
7 muscular dystrophy, limb-girdle, autosomal recessive 5 10.3
8 muscular dystrophy, limb-girdle, autosomal recessive 3 10.3
9 limb-girdle muscular dystrophy 10.3
10 atrial standstill 1 10.1
11 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1
12 respiratory failure 10.1
13 dilated cardiomyopathy 10.1
14 qualitative or quantitative defects of sarcoglycan 10.1
15 myoglobinuria 10.1
16 dystrophinopathies 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

32 59 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
2 delayed speech and language development 59 Frequent (79-30%)
3 myopathy 59 Frequent (79-30%)
4 elevated serum creatine phosphokinase 59 Frequent (79-30%)
5 cardiomyopathy 59 Occasional (29-5%)
6 waddling gait 59 Frequent (79-30%)
7 scapular winging 32 HP:0003691
8 pelvic girdle muscle weakness 59 Frequent (79-30%)
9 difficulty walking 59 Frequent (79-30%)
10 muscular dystrophy 32 HP:0003560
11 myopathic facies 59 Frequent (79-30%)
12 limb-girdle muscle weakness 32 HP:0003325
13 increased variability in muscle fiber diameter 59 Frequent (79-30%)
14 proximal amyotrophy 32 HP:0007126
15 gowers sign 59 Frequent (79-30%)
16 calf muscle hypertrophy 59 Frequent (79-30%)
17 calf muscle pseudohypertrophy 32 HP:0003707
18 myoglobinuria 59 Occasional (29-5%)
19 broad-based gait 59 Frequent (79-30%)
20 pelvic girdle muscle atrophy 32 HP:0008988
21 shoulder girdle muscle atrophy 32 HP:0003724
22 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
proximal muscle atrophy
muscle weakness, proximal, limb-girdle
trunk muscle atrophy
calf pseudohypertrophy
skeletal muscle shows dystrophic changes
more
Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
dilated cardiomyopathy (rare)

Clinical features from OMIM:

604286

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/IIa Gene Transfer Clinical Trial for LGMD2E (β-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Administered by Systemic Perfusion Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
2 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

41
Skeletal Muscle, Heart

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

(show all 46)
# Title Authors PMID Year
1
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. 38 8 71
7581448 1995
2
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. 8 71
10662809 2000
3
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). 8 71
8968749 1996
4
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. 8 71
7581449 1995
5
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 38 8
10069710 1999
6
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8
30055862 2018
7
Revised spectrum of mutations in sarcoglycanopathies. 8
18285821 2008
8
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. 8
16088906 2005
9
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. 71
10874299 2000
10
Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. 8
10441321 1999
11
Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy. 8
10407854 1999
12
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. 71
9631401 1998
13
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 8
7720071 1995
14
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. 8
7795603 1995
15
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. 8
1505977 1992
16
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. 8
5637795 1968
17
Progressive muscular dystrophy: autosomal recessive type. 8
13718465 1961
18
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 38
30764848 2019
19
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. 38
29476695 2018
20
MRI in sarcoglycanopathies: a large international cohort study. 38
28889091 2018
21
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 38
28687063 2017
22
Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. 38
28284983 2017
23
Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies. 38
28219397 2017
24
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 38
28403181 2017
25
β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice. 38
26214262 2016
26
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. 38
25862795 2015
27
Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. 38
25596466 2015
28
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 38
24843229 2014
29
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 38
18996010 2008
30
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. 38
18779423 2008
31
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 38
17994539 2008
32
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. 38
16934466 2006
33
[Limb girdle muscular dystrophies]. 38
15316618 2004
34
Beta-sarcoglycan gene mutations in Turkey. 38
15938573 2004
35
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 38
14959561 2003
36
LGMD2E patients risk developing dilated cardiomyopathy. 38
12868499 2003
37
[LGMD2C, LGMD2D, LGMD2E, LGMD2F]. 38
11555999 2001
38
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. 38
10619713 1999
39
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. 38
9565988 1998
40
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 38
9266733 1997
41
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. 38
9245996 1997
42
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 38
9192266 1997
43
Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. 38
8943294 1996
44
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 38
8841194 1996
45
Limb-girdle muscular dystrophy: a follow-up study of 79 patients. 38
8899051 1996
46
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. 38
8776597 1996

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SGCB NM_000232.4(SGCB): c.82_86del (p.Glu28fs) deletion Pathogenic rs1553940687 4:52899754-52899758 4:52033588-52033592
2 SGCB NC_000004.11: g.(?_52904373)_(52904445_?)del deletion Pathogenic 4:52904373-52904445 4:52038207-52038279
3 SGCB NM_000232.4(SGCB): c.28G> T (p.Glu10Ter) single nucleotide variant Pathogenic rs1448040082 4:52904398-52904398 4:52038232-52038232
4 SGCB NM_000232.4(SGCB): c.253_254del (p.Val85fs) deletion Pathogenic rs1553940274 4:52896019-52896020 4:52029853-52029854
5 SGCB SGCB, 8-BP DUP, NT383 duplication Pathogenic
6 SGCB SGCB, 2-BP DEL, NT465 deletion Pathogenic
7 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 4:52896001-52896001 4:52029835-52029835
8 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 4:52895950-52895950 4:52029784-52029784
9 SGCB SGCB, 4-BP DEL, 243+3GAGT deletion Pathogenic
10 SGCB NC_000004.11: g.(?_52890113)_(52904435_?)del deletion Pathogenic 4:52890113-52904435 4:52023947-52038269
11 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28936383 4:52895065-52895065 4:52028899-52028899
12 SGCB NM_000232.4(SGCB): c.1_2del (p.Met1fs) deletion Pathogenic/Likely pathogenic rs886042503 4:52904424-52904425 4:52038258-52038259
13 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 4:52895932-52895932 4:52029766-52029766
14 SGCB NM_000232.4(SGCB): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752492870 4:52904395-52904395 4:52038229-52038229
15 SGCB NM_000232.4(SGCB): c.656_657del (p.Lys219fs) deletion Pathogenic/Likely pathogenic rs775458201 4:52894230-52894231 4:52028064-52028065
16 SGCB NM_000232.4(SGCB): c.29_33del (p.Glu10fs) deletion Pathogenic/Likely pathogenic rs1057517064 4:52904393-52904397 4:52038227-52038231
17 SGCB NM_000232.4(SGCB): c.-15_8del (p.Met1fs) deletion Likely pathogenic rs1057517205 4:52904418-52904440 4:52038252-52038274
18 SGCB NM_000232.4(SGCB): c.699_702del (p.Phe233fs) deletion Likely pathogenic rs1057516515 4:52894185-52894188 4:52028019-52028022
19 SGCB NM_000232.4(SGCB): c.622-2A> G single nucleotide variant Likely pathogenic rs780596734 4:52894267-52894267 4:52028101-52028101
20 SGCB NM_000232.4(SGCB): c.551_552del (p.Asp183_Tyr184insTer) deletion Likely pathogenic rs1057517051 4:52894965-52894966 4:52028799-52028800
21 SGCB NM_000232.4(SGCB): c.216_219del (p.Phe73fs) deletion Likely pathogenic rs1057516360 4:52899621-52899624 4:52033455-52033458
22 SGCB NM_000232.4(SGCB): c.85A> T (p.Arg29Ter) single nucleotide variant Likely pathogenic rs747809412 4:52899755-52899755 4:52033589-52033589
23 SGCB NM_000232.4(SGCB): c.621+1G> T single nucleotide variant Likely pathogenic rs1264362642 4:52894895-52894895 4:52028729-52028729
24 SGCB NM_000232.4(SGCB): c.271C> T (p.Arg91Cys) single nucleotide variant Likely pathogenic rs555514820 4:52896002-52896002 4:52029836-52029836
25 SGCB NM_000232.4(SGCB): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs1553940262 4:52895939-52895939 4:52029773-52029773
26 SGCB NM_000232.4(SGCB): c.650del (p.Asn217fs) deletion Likely pathogenic rs1553940079 4:52894236-52894237 4:52028071-52028071
27 SGCB NM_000232.4(SGCB): c.243+2T> G single nucleotide variant Likely pathogenic rs1553940661 4:52899595-52899595 4:52033429-52033429
28 SGCB NM_000232.4(SGCB): c.243+1G> T single nucleotide variant Likely pathogenic rs1553940663 4:52899596-52899596 4:52033430-52033430
29 SGCB NM_000232.4(SGCB): c.33+1G> A single nucleotide variant Likely pathogenic rs1553940957 4:52904392-52904392 4:52038226-52038226
30 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Likely pathogenic rs104893871 4:52895974-52895974 4:52029808-52029808
31 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Likely pathogenic rs104893869 4:52896001-52896001 4:52029835-52029835
32 SGCB NM_000232.4(SGCB): c.595_598del (p.Asn199fs) deletion Likely pathogenic rs762114570 4:52894918-52894922 4:52028753-52028756
33 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs104893868 4:52894965-52894965 4:52028799-52028799
34 SGCB NM_000232.4(SGCB): c.621+1G> A single nucleotide variant Likely pathogenic 4:52894895-52894895 4:52028729-52028729
35 SGCB NM_000232.4(SGCB): c.799C> T (p.Arg267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200761715 4:52890281-52890281 4:52024115-52024115
36 SGCB NM_000232.4(SGCB): c.943G> A (p.Gly315Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150395645 4:52890137-52890137 4:52023971-52023971
37 SGCB NM_000232.4(SGCB): c.9_14dup (p.Ala8_Ala9dup) duplication Conflicting interpretations of pathogenicity rs886044103 4:52904412-52904417 4:52038246-52038251
38 SGCB NM_000232.4(SGCB): c.-10_22dup (p.Ala8fs) duplication Conflicting interpretations of pathogenicity rs1553940963 4:52904404-52904435 4:52038238-52038269
39 SGCB NM_000232.4(SGCB): c.940T> C (p.Cys314Arg) single nucleotide variant Uncertain significance rs573919387 4:52890140-52890140 4:52023974-52023974
40 SGCB NM_000232.4(SGCB): c.544A> C (p.Thr182Pro) single nucleotide variant Uncertain significance rs751427686 4:52894973-52894973 4:52028807-52028807
41 SGCB NM_000232.4(SGCB): c.707G> A (p.Gly236Asp) single nucleotide variant Uncertain significance rs1553940073 4:52894180-52894180 4:52028014-52028014
42 SGCB NM_000232.4(SGCB): c.244A> G (p.Ile82Val) single nucleotide variant Uncertain significance rs143106297 4:52896029-52896029 4:52029863-52029863
43 SGCB NM_000232.4(SGCB): c.857del (p.Lys286fs) deletion Uncertain significance rs1553939681 4:52890222-52890223 4:52024057-52024057
44 SGCB NM_000232.4(SGCB): c.499G> A (p.Gly167Ser) single nucleotide variant Uncertain significance rs779516489 4:52895018-52895018 4:52028852-52028852
45 SGCB NM_000232.4(SGCB): c.265G> A (p.Val89Met) single nucleotide variant Uncertain significance rs762652676 4:52896008-52896008 4:52029842-52029842
46 SGCB NM_000232.4(SGCB): c.243+3_243+6delGAGT deletion Uncertain significance rs1553940660 4:52899590-52899594 4:52033425-52033428
47 SGCB NM_000232.4(SGCB): c.841G> A (p.Asp281Asn) single nucleotide variant Uncertain significance rs374923265 4:52890239-52890239 4:52024073-52024073
48 SGCB NC_000004.11: g.(?_52899577)_(52899826_?)dup duplication Uncertain significance 4:52899577-52899826 4:52033411-52033660
49 SGCB NM_000232.4(SGCB): c.785T> C (p.Met262Thr) single nucleotide variant Uncertain significance rs201923065 4:52890295-52890295 4:52024129-52024129
50 SGCB NM_000232.4(SGCB): c.859del (p.Leu287fs) deletion Uncertain significance rs1553939675 4:52890221-52890221 4:52024055-52024055

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

74 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SGCB p.Arg91Leu VAR_010391 rs104893869
2 SGCB p.Arg91Pro VAR_010392 rs104893869
3 SGCB p.Met100Lys VAR_010393 rs104893871
4 SGCB p.Leu108Arg VAR_010394 rs104893870
5 SGCB p.Thr151Arg VAR_010395 rs28936383
6 SGCB p.Gln11Glu VAR_010421 rs752492870
7 SGCB p.Arg91Cys VAR_010422 rs555514820
8 SGCB p.Ser114Phe VAR_010423 rs150518260
9 SGCB p.Ile119Phe VAR_010424 rs762412447
10 SGCB p.Gly139Asp VAR_010425
11 SGCB p.Gly167Ser VAR_010426 rs779516489
12 SGCB p.Thr182Ala VAR_010427

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

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