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LGMD2C
MCID: MSC171
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (LGMD2C)

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
Lgmd2c 57 53 59 75
Dmda1 57 53 75
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, Limb-Girdle, Type 2c 57 13
Muscular Dystrophy, Duchenne-Like 57 53
Adhalin Deficiency, Secondary 57 53
Gamma-Sarcoglycanopathy 53 59
Maghrebian Myopathy 57 53
Scarmd 57 75
Dmda 57 53
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 57
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 75
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 75
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 75
Sarcoglycan Gamma Deficiency 75
Sarcoglycan, Gamma 13
Lgmdr5 57

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:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


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


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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 muscular dystrophy, limb-girdle, autosomal recessive 3. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and lung, and related phenotypes are scoliosis and elevated serum creatine phosphokinase

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2C: 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.

Description from OMIM: 253700
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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 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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2c 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 3 11.1
3 lung cancer susceptibility 3 10.4
4 muscular dystrophy 10.3
5 limb-girdle muscular dystrophy 10.2
6 myositis 10.1
7 myoglobinuria 10.1
8 nonsyndromic deafness 10.0
9 autosomal recessive limb-girdle muscular dystrophy 10.0
10 dfnb1 10.0

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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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

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

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

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Search Clinical Trials , 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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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, Lung, Skeletal Muscle
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Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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

(show all 11)
# Title Authors Year
1
Severe murine limb girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. ( 27935071 )
2016
2
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. ( 25802879 )
2015
3
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. ( 24552312 )
2014
4
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. ( 24638197 )
2014
5
A phase I trial of adeno-associated virus serotype 1-I^-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. ( 22240777 )
2012
6
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. ( 20350330 )
2010
7
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. ( 16832103 )
2006
8
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. ( 10797406 )
2000
9
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. ( 10417666 )
1999
10
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. ( 9885023 )
1998
11
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). ( 8530067 )
1995
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Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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

75
# 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

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

6 (show top 50) (show all 171)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
2 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
3 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh37 Chromosome 13, 23898652: 23898652
4 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh38 Chromosome 13, 23324513: 23324513
5 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
6 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
7 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
8 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh38 Chromosome 13, 23324452: 23324452
9 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 NCBI36 Chromosome 13, 22796591: 22796591
10 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh37 Chromosome 13, 23898693: 23898693
11 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh38 Chromosome 13, 23324554: 23324554
12 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh37 Chromosome 13, 23808782: 23808782
13 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh38 Chromosome 13, 23234643: 23234643
14 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh37 Chromosome 13, 23824783: 23824783
15 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh38 Chromosome 13, 23250644: 23250644
16 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh37 Chromosome 13, 23824818: 23824818
17 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh38 Chromosome 13, 23250679: 23250679
18 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh37 Chromosome 13, 23898509: 23898509
19 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh38 Chromosome 13, 23324370: 23324370
20 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh37 Chromosome 13, 23802555: 23802555
21 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh38 Chromosome 13, 23228416: 23228416
22 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh37 Chromosome 13, 23853547: 23853547
23 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh38 Chromosome 13, 23279408: 23279408
24 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
25 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh38 Chromosome 13, 23295434: 23295434
26 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
27 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh38 Chromosome 13, 23324400: 23324400
28 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh37 Chromosome 13, 23778032: 23778035
29 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh38 Chromosome 13, 23203893: 23203896
30 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh37 Chromosome 13, 23894887: 23894887
31 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh38 Chromosome 13, 23320748: 23320748
32 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh38 Chromosome 13, 23324525: 23324525
33 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh37 Chromosome 13, 23898664: 23898664
34 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh37 Chromosome 13, 23898690: 23898690
35 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh38 Chromosome 13, 23324551: 23324551
36 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh37 Chromosome 13, 23894778: 23894778
37 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh38 Chromosome 13, 23320639: 23320639
38 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh37 Chromosome 13, 23869555: 23869555
39 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh38 Chromosome 13, 23295416: 23295416
40 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh37 Chromosome 13, 23853564: 23853570
41 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh38 Chromosome 13, 23279425: 23279431
42 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh37 Chromosome 13, 23778029: 23778029
43 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh38 Chromosome 13, 23203890: 23203890
44 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh37 Chromosome 13, 23898556: 23898556
45 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh38 Chromosome 13, 23324417: 23324417
46 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh37 Chromosome 13, 23853496: 23853496
47 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh38 Chromosome 13, 23279357: 23279357
48 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh37 Chromosome 13, 23898607: 23898607
49 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh38 Chromosome 13, 23324468: 23324468
50 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh37 Chromosome 13, 23808789: 23808789

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

About this section
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
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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