MCID: LMB006
MIFTS: 52

Limb-Girdle Muscular Dystrophy malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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Aliases & Descriptions for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 10 21 45 23 12
Limb Girdle Muscular Dystrophy 10 45 22
Lgmd 21 22 23
Muscular Dystrophies, Limb-Girdle 65 36
Muscular Dystrophy Limb-Girdle 47 24
Erb's Muscular Dystrophy 10 65
 
Limb-Girdle Muscular Dystrophy Autosomal Recessive 65
Leyden-Mbius Muscular Dystrophy 10
Myopathic Limb-Girdle Syndrome 23
Limb-Girdle Syndrome 23
Limb Girdle 47


Classifications:



External Ids:

Disease Ontology10 DOID:11724
ICD9CM29 359.1
SNOMED-CT59 93153005, 56096001
NCIt42 C84828
MeSH36 D049288

Summaries for Limb-Girdle Muscular Dystrophy

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NIH Rare Diseases:45 Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. the conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. onset may occur in childhood, adolescence, young adulthood, or even later. males and females are affected in equal numbers. most cases of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. rarely, autosomal dominant cases have been reported. while there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. there are at least 19 different types of limb-girdle muscular dystrophy. last updated: 11/1/2010

MalaCards based summary: Limb-Girdle Muscular Dystrophy, also known as limb girdle muscular dystrophy, is related to muscular dystrophy, limb-girdle, type 1b and muscular dystrophy, limb-girdle, type ic. An important gene associated with Limb-Girdle Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways are Striated Muscle Contraction and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include skeletal muscle, heart and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Disease Ontology:10 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.

Genetics Home Reference:23 Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

Wikipedia:68 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews summary for lgmd-overview

Related Diseases for Limb-Girdle Muscular Dystrophy

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Limb-Girdle Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 216)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 1b31.4CAV3, LMNA
2muscular dystrophy, limb-girdle, type ic31.4CAV3, DYSF
3becker muscular dystrophy30.7CAV3, SGCA, SGCB, TTN
4miyoshi muscular dystrophy 130.7CAPN3, DYSF
5muscular dystrophy, limb-girdle, type 2e30.6CAPN3, DYSF, SGCA, SGCB, TCAP, TRIM32
6muscular dystrophy, limb-girdle, type 2h30.4CAPN3, DYSF, TCAP, TRIM32, TTN
7muscular dystrophy30.3ANO5, CAPN3, CAV3, DYSF, FKTN, LMNA
8muscular dystrophy, limb-girdle, type 1a30.2CAPN3, CAV3, DYSF, MYOT, TCAP, TRIM32
9myasthenia gravis30.1CAV3, TTN
10muscular dystrophy, limb-girdle, type 2b30.0CAPN3, CAV3, DYSF, MYOT, SGCA, SGCB
11bethlem myopathy 129.9ANO5, CAPN3, LMNA, SGCG
12muscular dystrophy, limb-girdle, type 2f29.7CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG
13myeloid leukemia27.6ANO5, CAPN3, CAV3, DNAJB6, DYSF, FKTN
14myopathy11.1
15limb-girdle muscular dystrophy, type 1g10.9
16calpainopathy10.8
17muscular dystrophy-dystroglycanopathy , type c, 110.8
18muscular atrophy10.8
19muscular dystrophy, limb-girdle, type 2q10.8
20muscular dystrophy-dystroglycanopathy , type c, 510.8
21cardiomyopathy10.8
22muscular dystrophy, limb-girdle, type 1e10.8
23muscular dystrophy, limb-girdle, type 2a10.8
24muscular dystrophy, limb-girdle, type 1f10.8
25muscle disorders10.8
26atrophic muscular disease10.8
27muscle tissue disease10.8
28neuromuscular disease10.8
29progressive muscular dystrophy10.8
30autosomal recessive limb-girdle muscular dystrophy type 2a10.8
31muscular dystrophy, limb-girdle, type 2j10.7
32muscular dystrophy, limb-girdle, type 2l10.7
33muscular dystrophy, limb-girdle, type 2c10.7
34muscular dystrophy, limb-girdle, type 2d10.7
35muscular dystrophy-dystroglycanopathy , type c, 310.7
36muscular dystrophy, limb-girdle, type 1h10.7
37limb-girdle muscular dystrophy type 1d10.7
38sarcoglycanopathies10.7
39muscular dystrophy-dystroglycanopathy , type c, 410.7
40muscular dystrophy-dystroglycanopathy , type c, 210.7
41muscular dystrophy, limb-girdle, type 2g10.7
42autosomal recessive limb-girdle muscular dystrophy type 2d10.7
43autosomal recessive limb-girdle muscular dystrophy type 2c10.7
44autosomal recessive limb-girdle muscular dystrophy type 2b10.7
45emery-dreifuss muscular dystrophy10.6
46dysferlinopathy10.6
47epidermolysa bullosa simplex with muscular dystrophy10.6
48limb-girdle muscular dystrophies, autosomal dominant10.6
49autosomal recessive limb-girdle muscular dystrophy type 2h10.6
50autosomal recessive limb-girdle muscular dystrophy type 2q10.6

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy:



Diseases related to limb-girdle muscular dystrophy

Symptoms for Limb-Girdle Muscular Dystrophy

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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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Drugs for Limb-Girdle Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311283915-83-75362119
Synonyms:
(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline
76547-98-3
77726-95-5
83915-83-7 (Parent)
AC1NSFPF
Acerbon
Acercomp
Alapril
BB_NC-1454
BIDD:GT0755
BPBio1_000290
BRD-K67966701-335-03-5
BRN 4276619
BSPBio_000262
C21H31N3O5
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
Cipral
Cipril
Coric
D08131
DB00722
DivK1c_001037
Doneka
EINECS 278-488-1
HMS1921B14
HMS2090O14
HMS2092L21
HMS503O15
I06-1895
ICI-209K
IDI1_001037
Inhibril
Inopril
KBio1_001037
KBio2_000977
KBio2_003545
KBio2_006113
KBio3_002002
KBioGR_001599
KBioSS_000977
L0220
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
Lisinopril
Lisinopril (INN)
 
Lisinopril (anhydrous)
Lisinopril 10mg
Lisinopril 2.5mg
Lisinopril 20mg
Lisinopril 40mg
Lisinopril 5mg
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
NCGC00179623-01
NINDS_001037
Noperten
Novatec
Presiten
Prestwick0_000301
Prestwick1_000301
Prestwick2_000301
Prestwick3_000301
Prinil
Prinivil
Prinzide
Renacor
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
2DeflazacortPhase 2, Phase 31214484-47-0
3UbiquinonePhase 2, Phase 390
4
Coenzyme Q10NutraceuticalPhase 2, Phase 3101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
3Study Evaluating MYO-029 in Adult Muscular DystrophyCompletedNCT00104078Phase 1, Phase 2
4The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesRecruitingNCT02579239Phase 1, Phase 2
5Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
6Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 1
7Stem Cell Therapy in Limb Girdle Muscular DystrophyCompletedNCT02050776Phase 1
8Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)CompletedNCT00494195Phase 1
9Safety Study of Transvenous Limb Perfusion in Human Muscular DystrophyCompletedNCT00873782Phase 1
10Cell Therapy in Limb Girdle Muscular DystrophyRecruitingNCT02245711Phase 1
11Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
12Cardiac Outcome Measures in Children With Muscular DystrophyCompletedNCT01066455
13Cardiac Magnetic Resonance in Children With Muscular DystrophyCompletedNCT01081080
14Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2IRecruitingNCT02165358
15Limb Girdle Muscular Dystrophy (LGMD) Natural HistoryRecruitingNCT01783509
16Molecular Analysis of Patients With Neuromuscular DiseaseRecruitingNCT00390104
17Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
18Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
19Genetic Characterization of Individuals With Limb Girdle Muscular DystrophyActive, not recruitingNCT00457912
20MRI and Muscle Involvement in Patients With Mutations in GMPPBActive, not recruitingNCT02635321
21Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy


Cochrane evidence based reviews: Muscular Dystrophies, Limb-Girdle

Genetic Tests for Limb-Girdle Muscular Dystrophy

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Genetic tests related to Limb-Girdle Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy22 24

Anatomical Context for Limb-Girdle Muscular Dystrophy

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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

33
Skeletal muscle, Heart, Bone, Testes, Monocytes, Myeloid, Pituitary

Animal Models for Limb-Girdle Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.9CAPN3, CAV3, LMNA, SGCA, SGCB, SGCD
2MP:00053766.1CAPN3, CAV3, DYSF, FKTN, LMNA, SGCA
3MP:00053695.7CAPN3, CAV3, DYSF, FKTN, LMNA, SGCA

Publications for Limb-Girdle Muscular Dystrophy

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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 440)
idTitleAuthorsYear
1
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. (25998610)
2015
2
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (25556389)
2015
3
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. (25724973)
2015
4
Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. (25149668)
2014
5
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. (24638197)
2014
6
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. (25298746)
2014
7
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. (23908349)
2013
8
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (23687351)
2013
9
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. (23677060)
2013
10
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (23830518)
2013
11
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study. (23414389)
2013
12
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. (22505452)
2012
13
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (20634290)
2010
14
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
15
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
2010
16
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. (20068593)
2010
17
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? (19287313)
2009
18
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
19
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. (17897828)
2008
20
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (18495154)
2008
21
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. (16634037)
2006
22
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. (16832103)
2006
23
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. (15580560)
2005
24
The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. (15221067)
2004
25
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. (12913210)
2003
26
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. (12801918)
2003
27
Recent advances in limb-girdle muscular dystrophy research]. (12235836)
2001
28
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. (11485017)
2001
29
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. (11371436)
2001
30
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
31
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (10655062)
2000
32
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy. (11382199)
2000
33
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
34
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. (10191080)
1999
35
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
36
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
37
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
38
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree. (9858109)
1998
39
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
40
Limb-girdle muscular dystrophy 2C: clinical aspects. (9027861)
1996
41
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
42
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
43
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996
44
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
45
Myotonic dystrophy and limb girdle muscular dystrophy in one family. (8086779)
1994
46
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. (1901754)
1991
47
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
48
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
49
Lymphocyte capping in limb-girdle muscular dystrophy: patients and carriers in an Amish isolate. (7114089)
1982
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Limb-Girdle Muscular Dystrophy

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy

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Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy

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Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8CAV3, DYSF, TCAP, TTN
2
Show member pathways
7.9LMNA, SGCA, SGCB, SGCD, SGCG, TTN

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy

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Cellular components related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:003031510.0CAPN3, CAV3, DYSF
2I bandGO:00316749.6TCAP, TTN
3dystroglycan complexGO:00160119.5SGCA, SGCB, SGCD, SGCG
4sarcoglycan complexGO:00160129.5SGCA, SGCB, SGCD, SGCG
5cytoskeletonGO:00058569.0SGCA, SGCB, SGCD, SGCG
6dystrophin-associated glycoprotein complexGO:00160108.9CAV3, SGCA, SGCB, SGCD
7sarcolemmaGO:00423838.2CAV3, DYSF, MYOT, SGCA, SGCB, SGCD
8Z discGO:00300187.6CAPN3, CAV3, DNAJB6, MYOT, TCAP, TTN

Biological processes related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:000177810.5CAV3, DYSF
2cardiac muscle cell developmentGO:005501310.3CAV3, SGCB
3cardiac muscle tissue developmentGO:004873810.1SGCD, SGCG
4protein localization to nucleusGO:003450410.1DNAJB6, LMNA
5muscle cell developmentGO:005500110.0SGCD, SGCG
6positive regulation of proteolysisGO:004586210.0CAPN3, TRIM32
7heart contractionGO:006004710.0SGCD, SGCG
8muscle cell cellular homeostasisGO:00467169.8CAPN3, CAV3
9cardiac muscle hypertrophyGO:00033009.8TCAP, TTN
10skeletal muscle thin filament assemblyGO:00302409.8TCAP, TTN
11skeletal muscle myosin thick filament assemblyGO:00302419.8TCAP, TTN
12cardiac muscle fiber developmentGO:00487399.8TCAP, TTN
13sarcomerogenesisGO:00487699.7TCAP, TTN
14cardiac myofibril assemblyGO:00550039.7TCAP, TTN
15cardiac muscle tissue morphogenesisGO:00550089.7TCAP, TTN
16adult heart developmentGO:00075129.5TCAP, TTN
17detection of muscle stretchGO:00359959.5CAV3, TCAP, TTN
18sarcomere organizationGO:00452149.3CAPN3, TCAP, TTN
19muscle contractionGO:00069369.2MYOT, SGCA, TTN
20muscle filament slidingGO:00300499.0TCAP, TTN
21muscle organ developmentGO:00075177.4CAPN3, CAV3, FKTN, LMNA, SGCA, SGCB

Molecular functions related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.8CAPN3, TCAP
2protein complex scaffoldGO:00329479.5CAPN3, CAV3
3structural constituent of muscleGO:00083078.7CAPN3, MYOT, TCAP, TTN

Sources for Limb-Girdle Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
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29ICD9CM
30IUPHAR
31KEGG
34MedGen
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38MGI
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42NCIt
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66UMLS via Orphanet