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LGMDR5
MCID: MSC171
MIFTS: 39

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (LGMDR5)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 57 74
Lgmd2c 57 53 59 74
Muscular Dystrophy, Limb-Girdle, Type 2c 57 74 13
Dmda1 57 53 74
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 6
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 57 53
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 53 59
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 57 53
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 53 59
Muscular Dystrophy, Duchenne-Like 57 53
Adhalin Deficiency, Secondary 57 53
Gamma-Sarcoglycanopathy 53 59
Maghrebian Myopathy 57 53
Lgmdr5 57 74
Scarmd 57 74
Dmda 57 53
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 57
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 74
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; Dmda1 57
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 53
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 74
Muscular Dystrophy, Limb-Girdle, Type 2c; Lgmd2c 57
Dystrophy, Muscular, Limb-Girdle, Type 2c 40
Limb-Girdle Muscular Dystrophy, Type 2c 53
Sarcoglycan, Gamma, Deficiency of 57
Limb-Girdle Muscular Dystrophy 2c 74
Sarcoglycan Gamma Deficiency 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2c
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapid progression
onset 1-12 years
prevalent in north africa
wheelchair use by 10-30 years


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 5:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D049288
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C0410173
Orphanet 59 ORPHA353
MedGen 42 C0410173
Sources

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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NIH Rare Diseases : 53 Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities. LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5, also known as lgmd2c, is related to autosomal recessive limb-girdle muscular dystrophy type 2c and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and skeletal muscle, and related phenotypes are scoliosis and gowers sign

UniProtKB/Swiss-Prot : 74 Muscular dystrophy, limb-girdle, autosomal recessive 5: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

More information from OMIM: 253700 PS253600
Sources

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2c 11.8
2 limb-girdle muscular dystrophy 11.6
3 muscular dystrophy 10.5
4 qualitative or quantitative defects of sarcoglycan 10.4
5 cardiac arrhythmia 10.4
6 muscular dystrophy, duchenne type 10.4
7 diamond-blackfan anemia 2 10.4
8 respiratory failure 10.4
9 pneumothorax 10.4
10 muscular dystrophy, congenital, lmna-related 10.3
11 myopathy 10.3
12 muscular dystrophy, limb-girdle, autosomal recessive 3 10.2
13 progressive muscular dystrophy 10.2
14 major affective disorder 8 10.2
15 major affective disorder 9 10.2
16 bipolar disorder 10.2
17 muscular atrophy 10.2
18 myositis 10.1
19 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
20 muscular dystrophy, becker type 10.1
21 stroke, ischemic 10.1
22 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
23 myoglobinuria 10.1
24 cerebrovascular disease 10.1
25 hypereosinophilic syndrome 10.1
26 spastic ataxia, charlevoix-saguenay type 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1
29 branchiootic syndrome 1 10.1
30 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
31 nonsyndromic deafness 10.1
32 autosomal recessive disease 10.1
33 spastic ataxia 10.1
34 autosomal recessive limb-girdle muscular dystrophy 10.1
35 peripheral nervous system disease 10.1
36 neuropathy 10.1
37 dystrophinopathies 10.1
38 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1
39 dfnb1 10.1
40 spasticity 10.1
41 qualitative or quantitative defects of dystrophin 10.1
42 autosomal recessive spastic ataxia 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
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Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 Occasional (29-5%) HP:0002650
2 gowers sign 59 32 Occasional (29-5%) HP:0003391
3 calf muscle pseudohypertrophy 59 32 Frequent (79-30%) HP:0003707
4 right ventricular hypertrophy 59 32 Frequent (79-30%) HP:0001667
5 hyperlordosis 32 HP:0003307
6 macroglossia 59 Frequent (79-30%)
7 flexion contracture 32 HP:0001371
8 elevated serum creatine phosphokinase 59 Frequent (79-30%)
9 skeletal muscle atrophy 32 HP:0003202
10 restrictive ventilatory defect 32 HP:0002091
11 achilles tendon contracture 59 Occasional (29-5%)
12 waddling gait 59 Frequent (79-30%)
13 emg: myopathic abnormalities 59 Frequent (79-30%)
14 scapular winging 59 Frequent (79-30%)
15 long face 59 Occasional (29-5%)
16 pneumonia 32 HP:0002090
17 muscular dystrophy 32 HP:0003560
18 increased variability in muscle fiber diameter 59 Frequent (79-30%)
19 neck flexor weakness 59 Occasional (29-5%)
20 upper limb muscle weakness 59 Frequent (79-30%)
21 frequent falls 59 Frequent (79-30%)
22 difficulty climbing stairs 59 Frequent (79-30%)
23 difficulty running 59 Frequent (79-30%)
24 calf muscle hypertrophy 59 Frequent (79-30%)
25 increased endomysial connective tissue 59 Frequent (79-30%)
26 lumbar hyperlordosis 59 Frequent (79-30%)
27 abnormality of macrophages 59 Frequent (79-30%)
28 broad-based gait 59 Frequent (79-30%)
29 emg: myotonic runs 59 Frequent (79-30%)
30 left ventricular systolic dysfunction 59 Occasional (29-5%)
31 right ventricular dilatation 32 HP:0005133
32 tip-toe gait 59 Occasional (29-5%)
33 emg: positive sharp waves 59 Frequent (79-30%)
34 emg: myotonic discharges 59 Frequent (79-30%)
35 muscle fiber necrosis 32 HP:0003713
36 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
hyperlordosis

Muscle Soft Tissue:
gowers sign
calf muscle pseudohypertrophy
muscle fiber necrosis
muscle atrophy
progressive proximal muscle involvement
more
Skeletal Limbs:
joint contractures

Respiratory Lung:
pneumonia
restrictive lung disease

Cardiovascular Heart:
right ventricular hypertrophy
right ventricular dilatation
subclinical cardiac involvement in a subset of patients
abnormal precordial tall r waves on ekg

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

253700
Sources

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

# Genetic test Affiliating Genes
1 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 SGCG
Sources

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

41
Heart, Tongue, Skeletal Muscle, Lung
Sources

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

(show top 50) (show all 108)
# Title Authors PMID Year
1
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. 38 8 71
8968757 1996
2
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. 8 71
8923014 1996
3
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 8 71
7481775 1995
4
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 8 71
1303286 1992
5
C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. 38 71
15479193 2004
6
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. 38 8
11053682 2000
7
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. 38 8
10720277 2000
8
C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population. 38 71
10447257 1999
9
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. 38 71
9781048 1998
10
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. 38 8
8825917 1995
11
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) 38 8
7668303 1995
12
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 8
30055862 2018
13
Revised spectrum of mutations in sarcoglycanopathies. 8
18285821 2008
14
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. 71
16832103 2006
15
Canine and feline models of human inherited muscle diseases. 8
15694134 2005
16
Mutation history of the roma/gypsies. 71
15322984 2004
17
Neuromuscular disorders in the Gypsy ethnic group. A short review. 8
12966699 2003
18
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 71
10942431 2000
19
Limb-Girdle Muscular Dystrophy Overview 71
20301582 2000
20
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. 71
10874299 2000
21
Muscle degeneration without mechanical injury in sarcoglycan deficiency. 8
10485893 1999
22
Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred. 8
10507732 1999
23
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. 8
8641426 1996
24
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 8
7663524 1995
25
The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. 8
7898714 1995
26
Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. 8
8040315 1994
27
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. 8
8071965 1994
28
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. 8
8281158 1993
29
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. 8
8242065 1993
30
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. 8
8044705 1993
31
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families. 8
8499908 1993
32
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. 8
1406935 1992
33
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. 8
1867262 1991
34
Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. 8
2247244 1990
35
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. 8
2568091 1989
36
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. 8
2658592 1989
37
A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance. 8
3228998 1988
38
Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. 8
4042397 1985
39
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. 8
6633560 1983
40
[Duchenne muscular dystrophy in Tunesia: 31 cases in 13 families with autosomal recessive inheritance]. 8
7400780 1980
41
Muscular dystrophy in six young girls. 8
574202 1979
42
Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy. 8
13913764 1961
43
Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance. 8
13724668 1960
44
Autosomal recessive inheritance of Duchennetype muscular dystrophy. 8
13509526 1958
45
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 38
30919934 2019
46
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 38
30764848 2019
47
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey. 38
30838351 2018
48
MRI in sarcoglycanopathies: a large international cohort study. 38
28889091 2018
49
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. 38
30171536 2018
50
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
Sources

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SGCG NC_000013.10: g.(?_23777814)_(23853637_?)del deletion Pathogenic 13:23777814-23853637 13:23203675-23279498
2 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
3 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
4 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
5 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
6 SGCG NM_000231.2(SGCG): c.525del (p.Phe175fs) deletion Pathogenic rs786204786 13:23869573-23869573 13:23295434-23295434
7 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 13:23894887-23894887 13:23320748-23320748
8 SGCG NC_000013.10: g.(?_23667335)_(23985398_?)del deletion Pathogenic 13:23667335-23985398 13:23093196-23411259
9 SGCG NM_000231.2(SGCG): c.342dup (p.Ala115fs) duplication Pathogenic 13:23824813-23824813 13:23250674-23250674
10 SGCG NC_000013.10: g.(?_23667335)_(23985388_?)del deletion Pathogenic 13:23667335-23985388 13:23093196-23411249
11 SGCG NC_000013.10: g.(?_23667335)_(23778038_?)del deletion Pathogenic 13:23667335-23778038 13:23093196-23203899
12 SGCG NM_000231.2(SGCG): c.195+4_195+7del short repeat Pathogenic/Likely pathogenic rs797045106 13:23778032-23778035 13:23203893-23203896
13 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 13:23778029-23778029 13:23203890-23203890
14 SGCG NM_000231.2(SGCG): c.752del (p.Thr251fs) deletion Pathogenic/Likely pathogenic rs886042749 13:23898556-23898556 13:23324417-23324417
15 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104894422 13:23898652-23898652 13:23324513-23324513
16 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 13:23894778-23894778 13:23320639-23320639
17 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 13:23898591-23898591 13:23324452-23324452
18 SGCG NM_000231.2(SGCG): c.579-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs754415994 13:23894774-23894774 13:23320635-23320635
19 SGCG NM_000231.2(SGCG): c.702+1G> C single nucleotide variant Likely pathogenic rs1555248000 13:23894900-23894900 13:23320761-23320761
20 SGCG NM_000231.2(SGCG): c.298-2A> C single nucleotide variant Likely pathogenic rs1555240119 13:23824767-23824767 13:23250628-23250628
21 SGCG NM_000231.2(SGCG): c.723_724TG[2] (p.Cys243fs) short repeat Likely pathogenic rs758078849 13:23898526-23898528 13:23324392-23324393
22 SGCG NM_000231.2(SGCG): c.578+1G> C single nucleotide variant Likely pathogenic rs1555245353 13:23869627-23869627 13:23295488-23295488
23 SGCG NM_000231.2(SGCG): c.702+1G> A single nucleotide variant Likely pathogenic rs1555248000 13:23894900-23894900 13:23320761-23320761
24 SGCG NM_000231.2(SGCG): c.186G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic rs1555234810 13:23778019-23778019 13:23203880-23203880
25 SGCG NM_000231.2(SGCG): c.591dup (p.Thr198fs) duplication Likely pathogenic rs1555247973 13:23894783-23894783 13:23320649-23320649
26 SGCG NM_000231.2(SGCG): c.794_795GT[3] (p.Cys267fs) short repeat Likely pathogenic rs780348174 13:23898596-23898598 13:23324465-23324466
27 SGCG NM_000231.2(SGCG): c.133del (p.Ile45fs) deletion Likely pathogenic rs1555234799 13:23777965-23777966 13:23203827-23203827
28 SGCG NM_000231.2(SGCG): c.385+2T> A single nucleotide variant Likely pathogenic rs200206447 13:23824858-23824858 13:23250719-23250719
29 SGCG NM_000231.2(SGCG): c.386-1G> A single nucleotide variant Likely pathogenic rs913248720 13:23853497-23853497 13:23279358-23279358
30 SGCG NM_000231.2(SGCG): c.721del (p.Thr241fs) deletion Likely pathogenic rs1555248289 13:23898522-23898523 13:23324386-23324386
31 SGCG NM_000231.2(SGCG): c.768del (p.Ser257fs) deletion Likely pathogenic rs1199421806 13:23898571-23898572 13:23324433-23324433
32 SGCG NM_000231.2(SGCG): c.385+2T> C single nucleotide variant Likely pathogenic 13:23824858-23824858 13:23250719-23250719
33 SGCG NM_000231.2(SGCG): c.241_297+1169del deletion Likely pathogenic 13:23808791-23810016 13:23234652-23235877
34 SGCG NM_000231.2(SGCG): c.247G> T (p.Glu83Ter) single nucleotide variant Likely pathogenic 13:23808801-23808801 13:23234662-23234662
35 SGCG NM_000231.2(SGCG): c.479T> C (p.Val160Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs527562042 13:23853591-23853591 13:23279452-23279452
36 SGCG NM_000231.2(SGCG): c.-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs141771521 13:23755209-23755209 13:23181070-23181070
37 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 13:23869555-23869555 13:23295416-23295416
38 SGCG NM_000231.2(SGCG): c.832G> A (p.Gly278Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147820869 13:23898636-23898636 13:23324497-23324497
39 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 13:23898690-23898690 13:23324551-23324551
40 SGCG NM_000231.2(SGCG): c.-118G> A single nucleotide variant Uncertain significance rs886050065 13:23755097-23755097 13:23180958-23180958
41 SGCG NM_000231.2(SGCG): c.*474_*477AAGT[3] short repeat Uncertain significance rs886050066 13:23899158-23899161 13:23325019-23325022
42 SGCG NM_000231.2(SGCG): c.-125A> G single nucleotide variant Uncertain significance rs886050064 13:23755090-23755090 13:23180951-23180951
43 SGCG NM_000231.2(SGCG): c.*136T> A single nucleotide variant Uncertain significance rs3751372 13:23898816-23898816 13:23324677-23324677
44 SGCG NM_000231.2(SGCG): c.*185G> A single nucleotide variant Uncertain significance rs115918628 13:23898865-23898865 13:23324726-23324726
45 SGCG NM_000231.2(SGCG): c.326A> G (p.Gln109Arg) single nucleotide variant Uncertain significance rs201514102 13:23824797-23824797 13:23250658-23250658
46 SGCG NM_000231.2(SGCG): c.302C> T (p.Ser101Leu) single nucleotide variant Uncertain significance rs886042370 13:23824773-23824773 13:23250634-23250634
47 SGCG NM_000231.2(SGCG): c.236G> A (p.Arg79His) single nucleotide variant Uncertain significance rs375766013 13:23808790-23808790 13:23234651-23234651
48 SGCG NM_000231.2(SGCG): c.275C> A (p.Ala92Asp) single nucleotide variant Uncertain significance rs886044395 13:23808829-23808829 13:23234690-23234690
49 SGCG NM_000231.2(SGCG): c.17A> G (p.Tyr6Cys) single nucleotide variant Uncertain significance rs148041867 13:23777850-23777850 13:23203711-23203711
50 SGCG NM_000231.2(SGCG): c.58A> G (p.Asn20Asp) single nucleotide variant Uncertain significance rs763248287 13:23777891-23777891 13:23203752-23203752

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

74
# Symbol AA change Variation ID SNP ID
1 SGCG p.Cys283Tyr VAR_010398 rs104894422
2 SGCG p.Gly69Asp VAR_010430
3 SGCG p.Gly69Arg VAR_012202
4 SGCG p.Leu71Ser VAR_081101 rs143009120

Copy number variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262034 X 29400000 31500000 Microdeletion Duchenne-like muscular dystrophy
2 262131 X 31047265 33267647 Insertion DMD Duchenne-like muscular dystrophy
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Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5.
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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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