MCID: LMB006
MIFTS: 54

Limb-Girdle Muscular Dystrophy malady

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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Aliases & Descriptions for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 11 22 46 23 24 13
Limb Girdle Muscular Dystrophy 11 46 23 25
Lgmd 22 46 23 24
Muscular Dystrophies, Limb-Girdle 37 66
Leyden-Mbius Muscular Dystrophy 11
 
Myopathic Limb-Girdle Syndrome 24
Muscular Dystrophy Limb-Girdle 48
Erb's Muscular Dystrophy 11
Limb-Girdle Syndrome 24
Limb Girdle 48

Classifications:



External Ids:

Disease Ontology11 DOID:11724
ICD1028 G71.0
SNOMED-CT60 56096001, 93153005
MeSH37 D049288
NCIt43 C84828

Summaries for Limb-Girdle Muscular Dystrophy

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NIH Rare Diseases:46 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 limb girdle muscular dystrophy, is related to dystrophinopathies and emery-dreifuss muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways are Smooth Muscle Contraction and Allograft rejection. Affiliated tissues include skeletal muscle, heart and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Disease Ontology:11 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:24 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:69 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 Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophies, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Limb-Girdle Muscular Dystrophy 2x

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

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1dystrophinopathies31.3CAPN3, DYSF
2emery-dreifuss muscular dystrophy23.7ANO5, CAPN3, CAV3, DNAJB6, DYSF, HNRNPDL
3limb-girdle muscular dystrophy, type 1g12.6
4limb-girdle muscular dystrophy 2x12.5
5limb-girdle muscular dystrophies, autosomal dominant12.4
6limb-girdle muscular dystrophies, autosomal recessive12.4
7collagen type vi-related autosomal dominant limb-girdle muscular dystrophy12.3
8limb-girdle muscular dystrophy type 1d12.3
9autosomal dominant limb-girdle muscular dystrophy type 1e12.3
10calpainopathy12.2
11muscular dystrophy, limb-girdle, type 2e12.1
12muscular dystrophy-dystroglycanopathy , type c, 512.0
13muscular dystrophy, limb-girdle, type 2b12.0
14muscular dystrophy, limb-girdle, type 2c12.0
15muscular dystrophy, limb-girdle, type 1a12.0
16muscular dystrophy, limb-girdle, type 1b12.0
17muscular dystrophy, limb-girdle, type 2f12.0
18muscular dystrophy, limb-girdle, type 2h12.0
19muscular dystrophy, limb-girdle, type 2g12.0
20muscular dystrophy, limb-girdle, type 2q12.0
21muscular dystrophy-dystroglycanopathy , type c, 111.9
22muscular dystrophy, limb-girdle, type 1e11.9
23muscular dystrophy, limb-girdle, type 2a11.9
24muscular dystrophy, limb-girdle, type 2d11.9
25muscular dystrophy, limb-girdle, type ic11.9
26muscular dystrophy, limb-girdle, type 1f11.9
27muscular dystrophy, limb-girdle, type 2r11.9
28muscular dystrophy, limb-girdle, type 2j11.9
29muscular dystrophy, limb-girdle, type 2l11.9
30muscular dystrophy, limb-girdle, type 1h11.8
31muscular dystrophy-dystroglycanopathy , type c, 311.8
32inclusion body myopathy with early-onset paget disease and frontotemporal dementia 111.6
33epidermolysis bullosa simplex with muscular dystrophy11.6
34epidermolysa bullosa simplex with muscular dystrophy11.6
35muscular dystrophy-dystroglycanopathy , type c, 411.5
36muscular dystrophy-dystroglycanopathy , type c, 211.5
37muscular dystrophy11.5
38muscular dystrophy-dystroglycanopathy , type c, 711.4
39myopathy, myofibrillar, 111.3
40muscular dystrophy-dystroglycanopathy , type c, 1411.3
41muscular dystrophy-dystroglycanopathy , type c, 911.3
42muscular dystrophy-dystroglycanopathy , type c, 1211.3
43beta-sarcoglycanopathy11.3
44delta-sarcoglycanopathy11.3
45inclusion body myopathy with early-onset paget disease and frontotemporal dementia11.3
46dysferlinopathy10.9
47becker muscular dystrophy10.9
48myopathy10.8
49cataract10.6CAPN3, DYSF
50cardiomyopathy10.6

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
1DeflazacortPhase 2, Phase 31214484-47-0
2UbiquinonePhase 2, Phase 3132
3
protease inhibitorsPhase 2, Phase 35157
Synonyms:
 
protease inhibitors
4
LisinoprilPhase 2, Phase 311883915-83-75362119
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 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
5
Coenzyme Q10NutraceuticalPhase 2, Phase 3108303-98-05281915
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 Q-10
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 28)
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
4A Trial of PF-06252616 in Ambulatory Participants With LGMD2IRecruitingNCT02841267Phase 1, Phase 2
5The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesActive, not recruitingNCT02579239Phase 1, Phase 2
6Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
7Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular DystrophyEnrolling by invitationNCT02836418Phase 1, Phase 2
8Cell Therapy in Limb Girdle Muscular DystrophyCompletedNCT02245711Phase 1
9Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 1
10Stem Cell Therapy in Limb Girdle Muscular DystrophyCompletedNCT02050776Phase 1
11Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)CompletedNCT00494195Phase 1
12Safety Study of Transvenous Limb Perfusion in Human Muscular DystrophyCompletedNCT00873782Phase 1
13rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
14Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
15MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
16Cardiac Outcome Measures in Children With Muscular DystrophyCompletedNCT01066455
17Cardiac Magnetic Resonance in Children With Muscular DystrophyCompletedNCT01081080
18Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2IRecruitingNCT02165358
19Limb Girdle Muscular Dystrophy (LGMD) Natural HistoryRecruitingNCT01783509
20Molecular Analysis of Patients With Neuromuscular DiseaseRecruitingNCT00390104
21Acceptance and Commitment Therapy for Muscle DiseaseRecruitingNCT02810028
22Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular DisordersRecruitingNCT02833168
23Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
24Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
25Genetic Characterization of Individuals With Limb Girdle Muscular DystrophyActive, not recruitingNCT00457912
26MRI on Persons With Mutations in POMT2 Gene (LGMD2N)Active, not recruitingNCT02759302
27Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077
28Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS)Not yet recruitingNCT02897921

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 Dystrophy25 23

Anatomical Context for Limb-Girdle Muscular Dystrophy

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

34
Skeletal muscle, Heart, Bone, Testes, Myeloid, Pituitary, Monocytes

Animal Models for Limb-Girdle Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.1CAPN3, CAV3, LMNA, SGCA, SGCB, SGCD
2MP:00053767.0CAPN3, CAV3, DYSF, LMNA, SGCA, SGCD
3MP:00053696.9CAPN3, CAV3, DYSF, LMNA, SGCA, SGCB

Publications for Limb-Girdle Muscular Dystrophy

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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 467)
idTitleAuthorsYear
1
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. (27093116)
2016
2
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. (26944168)
2016
3
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. (26934379)
2016
4
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i. (27627455)
2016
5
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. (27500519)
2016
6
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (25556389)
2015
7
Limb Girdle Muscular Dystrophy (LGMD): Case Report. (25738022)
2015
8
Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. (25149668)
2014
9
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. (25298746)
2014
10
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A. (24715573)
2014
11
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (23687351)
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
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (20634290)
2010
14
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
2010
15
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. (20739790)
2010
16
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. (21031578)
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
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. (18276788)
2008
20
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. (18563459)
2008
21
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. (17785089)
2007
22
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. (17446099)
2007
23
Limb-girdle muscular dystrophy due to emerin gene mutations. (17620497)
2007
24
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB. (16816390)
2006
25
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
26
Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. (15678000)
2005
27
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. (15367920)
2004
28
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. (12801918)
2003
29
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
30
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy. (11382199)
2000
31
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A. (10818750)
2000
32
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
33
rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. (10341878)
1999
34
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. (10478586)
1999
35
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
36
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree. (9858109)
1998
37
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. (9694248)
1998
38
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
39
Limb girdle muscular dystrophy type 2A (CAPN3): mapping using allelic association. (9813455)
1998
40
Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation. (9572237)
1998
41
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. (9585331)
1998
42
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
43
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
44
A foundation for limb-girdle muscular dystrophy. (7585084)
1995
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
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
48
Cardiac involvement in a patient with limb-girdle muscular dystrophy. (2954935)
1987
49
Limb-girdle muscular dystrophy. (5173124)
1971
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Limb-Girdle Muscular Dystrophy

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Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1146C> T (p.Gly382=)single nucleotide variantLikely pathogenic, Pathogenicrs57508089GRCh37Chr 1, 156105901: 156105901
2LMNANM_170707.3(LMNA): c.1608+1G> Asingle nucleotide variantPathogenicrs267607592GRCh37Chr 1, 156107024: 156107024

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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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
1sarcoglycan complexGO:001601210.0SGCA, SGCB, SGCD, SGCG
2dystroglycan complexGO:00160119.9SGCA, SGCB, SGCD, SGCG
3T-tubuleGO:00303159.8CAPN3, CAV3, DYSF
4dystrophin-associated glycoprotein complexGO:00160109.7CAV3, SGCA, SGCB, SGCD
5cytoskeletonGO:00058569.6SGCA, SGCB, SGCD, SGCG
6sarcolemmaGO:00423838.9CAV3, DYSF, MYOT, SGCA, SGCB, SGCD
7Z discGO:00300188.5CAPN3, CAV3, DNAJB6, MYOT, TCAP
8cytoplasmGO:00057375.9CAPN3, CAV3, DNAJB6, HNRNPDL, LMNA, SGCA

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:000177810.4CAV3, DYSF
2muscle cell developmentGO:005500110.3SGCD, SGCG
3cardiac muscle cell developmentGO:005501310.3CAV3, SGCB
4cardiac muscle tissue developmentGO:004873810.1SGCD, SGCG
5detection of muscle stretchGO:00359959.9CAV3, TCAP
6protein localization to nucleusGO:00345049.9DNAJB6, LMNA
7sarcomere organizationGO:00452149.5CAPN3, TCAP
8heart contractionGO:00600479.5SGCD, SGCG
9membrane organizationGO:00610249.4SGCA, SGCB, SGCD, SGCG
10positive regulation of proteolysisGO:00458629.4CAPN3, TRIM32
11muscle contractionGO:00069369.4CAV3, DYSF, MYOT, SGCA
12muscle cell cellular homeostasisGO:00467168.8CAPN3, CAV3, TRIM32
13muscle organ developmentGO:00075178.1CAPN3, CAV3, SGCA, SGCB, SGCD, SGCG

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.3CAPN3, TCAP
2protein complex scaffoldGO:00329479.0CAPN3, CAV3
3structural constituent of muscleGO:00083078.8CAPN3, MYOT, TCAP

Sources for Limb-Girdle Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
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