MCID: LMB006
MIFTS: 53

Limb-Girdle Muscular Dystrophy malady

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

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

Classifications:



External Ids:

Disease Ontology10 DOID:11724
ICD1027 G71.0
SNOMED-CT59 56096001, 93153005
MeSH36 D049288
NCIt42 C84828
UMLS65 C0686353

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 forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. several rare forms are inherited in an autosomal dominant pattern. 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 20 different types of limb-girdle muscular dystrophy. last updated: 12/17/2015

MalaCards based summary: Limb-Girdle Muscular Dystrophy, also known as muscular dystrophies, limb-girdle, is related to muscular dystrophy, limb-girdle, type ic and muscular dystrophy, limb-girdle, type 1b. An important gene associated with Limb-Girdle Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways are Smooth Muscle Contraction and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include thyroid, prostate and skeletal muscle, 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 NBK1408

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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
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 122)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type ic33.7CAV3, DYSF
2muscular dystrophy, limb-girdle, type 1b33.5CAV3, LMNA
3muscular dystrophy, limb-girdle, type 2b31.2CAPN3, CAV3, DYSF, MYOT, SGCA, SGCB
4becker muscular dystrophy31.2CAV3, SGCA, SGCD
5limb-girdle muscular dystrophy, type 1g12.6
6limb-girdle muscular dystrophy type 1d12.4
7limb-girdle muscular dystrophies, autosomal dominant12.3
8autosomal recessive limb-girdle muscular dystrophy type 2a12.3
9autosomal recessive limb-girdle muscular dystrophy type 2h12.3
10autosomal recessive limb-girdle muscular dystrophy type 2f12.3
11limb-girdle muscular dystrophies, autosomal recessive12.3
12collagen type vi-related autosomal dominant limb-girdle muscular dystrophy12.3
13autosomal recessive limb-girdle muscular dystrophy type 2d12.3
14autosomal recessive limb-girdle muscular dystrophy type 2r12.3
15autosomal recessive limb-girdle muscular dystrophy type 2u12.3
16autosomal dominant limb-girdle muscular dystrophy type 1a12.3
17autosomal dominant limb-girdle muscular dystrophy type 1b12.3
18autosomal recessive limb-girdle muscular dystrophy type 2b12.3
19autosomal recessive limb-girdle muscular dystrophy type 2g12.3
20limb-girdle muscular dystrophy due to pomk deficiency12.3
21calpainopathy12.1
22muscular dystrophy, limb-girdle, type 2e12.1
23muscular dystrophy-dystroglycanopathy , type c, 112.1
24muscular dystrophy, limb-girdle, type 2q12.0
25muscular dystrophy-dystroglycanopathy , type c, 512.0
26muscular dystrophy, limb-girdle, type 2c12.0
27muscular dystrophy, limb-girdle, type 1e12.0
28muscular dystrophy, limb-girdle, type 1f12.0
29muscular dystrophy, limb-girdle, type 2j12.0
30muscular dystrophy, limb-girdle, type 2l12.0
31muscular dystrophy, limb-girdle, type 1h11.9
32muscular dystrophy-dystroglycanopathy , type c, 311.9
33muscular dystrophy, limb-girdle, type 1a11.9
34muscular dystrophy, limb-girdle, type 2f11.9
35muscular dystrophy, limb-girdle, type 2h11.9
36muscular dystrophy, limb-girdle, type 2g11.9
37muscular dystrophy, limb-girdle, type 2a11.8
38muscular dystrophy, limb-girdle, type 2d11.8
39muscular dystrophy, limb-girdle, type 2r11.8
40muscular dystrophy-dystroglycanopathy , type c, 411.6
41muscular dystrophy-dystroglycanopathy , type c, 211.6
42inclusion body myopathy with early-onset paget disease and frontotemporal dementia 111.6
43epidermolysis bullosa simplex with muscular dystrophy11.6
44epidermolysa bullosa simplex with muscular dystrophy11.6
45muscular dystrophy-dystroglycanopathy , type c, 1411.5
46muscular dystrophy-dystroglycanopathy , type c, 911.5
47muscular dystrophy11.5
48myopathy, myofibrillar, 111.3
49delta-sarcoglycanopathy11.3
50inclusion body myopathy with early-onset paget disease and frontotemporal dementia11.3

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):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311683915-83-75362119
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
2Immunosuppressive AgentsPhase 2, Phase 310422
3Immunologic FactorsPhase 2, Phase 318483
4Anti-Inflammatory AgentsPhase 2, Phase 38478
5DeflazacortPhase 2, Phase 31214484-47-0
6Protective AgentsPhase 2, Phase 35651
7VitaminsPhase 2, Phase 33857
8Protease InhibitorsPhase 2, Phase 34558
9UbiquinonePhase 2, Phase 392
10Trace ElementsPhase 2, Phase 33900
11HIV Protease InhibitorsPhase 2, Phase 34558
12Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3634
13MicronutrientsPhase 2, Phase 33901
14Antihypertensive AgentsPhase 2, Phase 33618
15
Coenzyme Q10NutraceuticalPhase 2, Phase 3104303-98-05281915
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
16VaccinesPhase 16085

Interventional clinical trials:

(show all 23)
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
11rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
12Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
13MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
14Cardiac Outcome Measures in Children With Muscular DystrophyCompletedNCT01066455
15Cardiac Magnetic Resonance in Children With Muscular DystrophyCompletedNCT01081080
16Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2IRecruitingNCT02165358
17Limb Girdle Muscular Dystrophy (LGMD) Natural HistoryRecruitingNCT01783509
18MRI on Persons With Mutations in POMT2 Gene (LGMD2N)RecruitingNCT02759302
19Molecular Analysis of Patients With Neuromuscular DiseaseRecruitingNCT00390104
20Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
21Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
22Genetic Characterization of Individuals With Limb Girdle Muscular DystrophyActive, not recruitingNCT00457912
23Clinical 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

Anatomical Context for Limb-Girdle Muscular Dystrophy

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

33
Thyroid, Prostate, Skeletal muscle, Lung, Breast, Endothelial, B cells

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:00053857.8CAPN3, CAV3, LMNA, SGCA, SGCB, SGCD
2MP:00053766.6CAPN3, CAV3, DYSF, FKTN, LMNA, SGCA
3MP:00053696.1CAPN3, 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 460)
idTitleAuthorsYear
1
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. (27093116)
2016
2
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). (27005420)
2016
3
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. (26944168)
2016
4
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
5
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (25556389)
2015
6
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. (25724973)
2015
7
Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. (25149668)
2014
8
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. (24638197)
2014
9
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
10
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (23687351)
2013
11
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. (23677060)
2013
12
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (23830518)
2013
13
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. (22505452)
2012
14
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (20634290)
2010
15
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
16
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
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
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
30
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (10655062)
2000
31
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy. (11382199)
2000
32
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
33
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
34
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
35
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
36
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
37
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
38
Limb-girdle muscular dystrophy 2C: clinical aspects. (9027861)
1996
39
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
40
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
41
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996
42
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
43
Myotonic dystrophy and limb girdle muscular dystrophy in one family. (8086779)
1994
44
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. (1901754)
1991
45
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
46
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
47
Lymphocyte capping in limb-girdle muscular dystrophy: patients and carriers in an Amish isolate. (7114089)
1982
48
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968
49
50

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 pathwaysScoreTop Affiliating Genes
110.0CAV3, DYSF
2
Show member pathways
8.8LMNA, SGCA, SGCB, SGCD, SGCG

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:00303159.9CAPN3, DYSF
2dystrophin-associated glycoprotein complexGO:00160109.7SGCA, SGCB, SGCD
3sarcolemmaGO:00423839.2CAV3, DYSF, MYOT, SGCB
4cytoskeletonGO:00058569.0SGCA, SGCB, SGCD, SGCG

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle cell developmentGO:005501310.1CAV3, SGCB
2muscle organ developmentGO:00075179.8CAPN3, CAV3

Sources for Limb-Girdle Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet