LGMD
MCID: LMB006
MIFTS: 51

Limb-Girdle Muscular Dystrophy (LGMD) 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 23 48 24 25
Lgmd 23 48 24 25
Limb Girdle Muscular Dystrophy 48 24 27
Muscular Dystrophies, Limb-Girdle 68
 
Muscular Dystrophy Limb-Girdle 50
Myopathic Limb-Girdle Syndrome 25
Limb-Girdle Syndrome 25
Limb Girdle 50

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy

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NIH Rare Diseases:48 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 LGMD, is related to autosomal recessive limb-girdle muscular dystrophy type 2x and autosomal recessive limb-girdle muscular dystrophy type 2f. An important gene associated with Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways are Smooth Muscle Contraction and Dilated cardiomyopathy. Affiliated tissues include skeletal muscle, heart and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Genetics Home Reference:25 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:71 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2x33.7CAPN3, DYSF, SGCA, SGCG
2autosomal recessive limb-girdle muscular dystrophy type 2f33.6CAV3, LMNA, MYOT
3autosomal dominant limb-girdle muscular dystrophy type 1c33.4CAPN3, DYSF, TCAP, TRIM32
4autosomal recessive limb-girdle muscular dystrophy type 2h32.9CAPN3, CAV3, DYSF, SGCA, TCAP, TRIM32
5autosomal recessive limb-girdle muscular dystrophy type 2w32.6CAPN3, CAV3, DYSF, MYOT, SGCA, TCAP
6rippling muscle disease31.9CAV3, DYSF
7ptosis30.3CAV3, DYSF
8limb-girdle muscular dystrophy, type 1g12.6
9autosomal recessive limb-girdle muscular dystrophy12.6
10autosomal dominant limb-girdle muscular dystrophy12.6
11autosomal recessive limb-girdle muscular dystrophy type 2b12.5
12limb-girdle muscular dystrophy 2z12.4
13muscular dystrophy, limb-girdle, type 2e12.3
14calpainopathy12.2
15collagen type vi-related autosomal dominant limb-girdle muscular dystrophy12.2
16muscular dystrophy, limb-girdle, type 2q12.2
17muscular dystrophy-dystroglycanopathy , type c, 112.2
18muscular dystrophy, limb-girdle, type 1e12.2
19autosomal recessive limb-girdle muscular dystrophy type 2z12.1
20muscular dystrophy, limb-girdle, type 2c12.1
21muscular dystrophy-dystroglycanopathy , type c, 512.1
22muscular dystrophy, limb-girdle, type 1f12.1
23muscular dystrophy, limb-girdle, type 1a12.1
24muscular dystrophy, limb-girdle, type 2a12.1
25muscular dystrophy, limb-girdle, type 1b12.1
26muscular dystrophy, limb-girdle, type 2g12.1
27muscular dystrophy, limb-girdle, type 2b12.1
28muscular dystrophy, limb-girdle, type 2r12.1
29muscular dystrophy, limb-girdle, type 1h12.1
30muscular dystrophy, limb-girdle, type 2d12.1
31muscular dystrophy, limb-girdle, type 2j12.1
32muscular dystrophy, limb-girdle, type 2l12.1
33muscular dystrophy-dystroglycanopathy , type c, 312.0
34muscular dystrophy-dystroglycanopathy , type c, 412.0
35muscular dystrophy-dystroglycanopathy , type c, 212.0
36muscular dystrophy, limb-girdle, type 2f12.0
37muscular dystrophy, limb-girdle, type 2h12.0
38muscular dystrophy-dystroglycanopathy , type c, 1411.9
39muscular dystrophy-dystroglycanopathy , type c, 911.9
40muscular dystrophy-dystroglycanopathy , type c, 711.9
41muscular dystrophy, limb-girdle, type ic11.9
42inclusion body myopathy with early-onset paget disease and frontotemporal dementia 111.7
43dysferlinopathy11.6
44epidermolysis bullosa simplex with muscular dystrophy11.4
45epidermolysa bullosa simplex with muscular dystrophy11.4
46becker muscular dystrophy11.4
47muscular dystrophy11.4
4811.3
49myopathy, myofibrillar, 111.1
50muscular dystrophy-dystroglycanopathy , type c, 1211.1

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



Diseases related to limb-girdle muscular dystrophy

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy

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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8CAPN3, CAV3, LMNA, SGCA, SGCB, SGCG
2MP:00053767.7CAPN3, CAV3, DYSF, LMNA, SGCA, SGCG
3MP:00053696.2CAPN3, CAV3, DYSF, LMNA, SGCA, SGCB

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 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortapprovedPhase 2, Phase 31314484-47-0
2
Lisinoprilapproved, investigationalPhase 2, Phase 311783915-83-75362119
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
3Anti-Inflammatory AgentsPhase 2, Phase 310729
4Immunosuppressive AgentsPhase 2, Phase 313086
5Protective AgentsPhase 2, Phase 37443
6UbiquinonePhase 2, Phase 3145
7VitaminsPhase 2, Phase 35282
8
protease inhibitorsPhase 2, Phase 35471
Synonyms:
 
protease inhibitors
9Trace ElementsPhase 2, Phase 36001
10MicronutrientsPhase 2, Phase 36001
11HIV Protease InhibitorsPhase 2, Phase 35470
12Antihypertensive AgentsPhase 2, Phase 34207
13Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3724
14
Coenzyme Q10experimental, NutraceuticalPhase 2, Phase 3121303-98-05281915
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
15Tin FluoridesPhase 1, Phase 2264
16VaccinesPhase 16611
17
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
18Pharmaceutical Solutions8192

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
3The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesCompletedNCT02579239Phase 1, Phase 2
4Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular DystrophyCompletedNCT02836418Phase 1, Phase 2
5Study Evaluating MYO-029 in Adult Muscular DystrophyCompletedNCT00104078Phase 1, Phase 2
6A Trial of PF-06252616 in Ambulatory Participants With LGMD2IRecruitingNCT02841267Phase 1, Phase 2
7Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
8Cell Therapy in Limb Girdle Muscular DystrophyCompletedNCT02245711Phase 1
9Stem Cell Therapy in Limb Girdle Muscular DystrophyCompletedNCT02050776Phase 1
10Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 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
14Molecular Analysis of Patients With Neuromuscular DiseaseUnknown statusNCT00390104
15Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2ICompletedNCT02165358
16Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
17MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
18MRI on Persons With Mutations in POMT2 Gene (LGMD2N)CompletedNCT02759302
19Cardiac Magnetic Resonance in Children With Muscular DystrophyCompletedNCT01081080
20Cardiac Outcome Measures in Children With Muscular DystrophyCompletedNCT01066455
21Limb Girdle Muscular Dystrophy (LGMD) Natural HistoryRecruitingNCT01783509
22Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular DisordersRecruitingNCT02833168
23Acceptance and Commitment Therapy for Muscle DiseaseRecruitingNCT02810028
24Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
25User-centred Assistive System for Arm Functions in Neuromuscular SubjectsRecruitingNCT03127241
26Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
27Genetic Characterization of Individuals With Limb Girdle Muscular DystrophyActive, not recruitingNCT00457912
28Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077
29Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS)Not yet recruitingNCT02897921

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

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 Dystrophy27 24

Anatomical Context for Limb-Girdle Muscular Dystrophy

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

36
Skeletal muscle, Heart, Bone, Testes, Myeloid, Pituitary, Monocytes

Publications for Limb-Girdle Muscular Dystrophy

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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 479)
idTitleAuthorsYear
1
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. (27872178)
2017
2
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. (28433477)
2017
3
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. (27184587)
2017
4
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. (27500519)
2016
5
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. (27020652)
2016
6
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i. (27627455)
2016
7
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. (27011640)
2016
8
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. (27561302)
2016
9
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. (26944168)
2016
10
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. (27342937)
2016
11
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. (27861222)
2016
12
Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1I+ Acetylation. (27974213)
2016
13
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. (26934379)
2016
14
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. (27671536)
2016
15
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. (26886200)
2016
16
Health perceptions of young adults living with recessive limb-girdle muscular dystrophy. (27005675)
2016
17
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. (27220833)
2016
18
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). (27766311)
2016
19
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. (27276190)
2016
20
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. (26916285)
2016
21
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. (27142102)
2016
22
Severe murine limb girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. (27935071)
2016
23
Case of limb-girdle muscular dystrophy for total thyroidectomy: Anaesthetic management. (27212726)
2016
24
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. (26913171)
2016
25
Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of I+-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation. (27109613)
2016
26
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. (27932089)
2016
27
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. (27922502)
2016
28
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. (26670295)
2016
29
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. (27259757)
2016
30
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. (27585670)
2016
31
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. (27093116)
2016
32
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). (27005420)
2016
33
An Irish case of limb-girdle muscular dystrophy 2I with structural eye involvement. (26833294)
2016
34
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
35
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. (26077327)
2015
36
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
37
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? (25898921)
2015
38
Incomplete penetrance in the spanish family with limb-girdle muscular dystrophy type 1F. (26351998)
2015
39
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. (26574668)
2015
40
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. (25663498)
2015
41
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene. (26583491)
2015
42
The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A controlled clinical trial. (26166595)
2015
43
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. (25724973)
2015
44
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. (26338452)
2015
45
Limb-girdle muscular dystrophy with obesity for elective cesarean section: Anesthetic management and brief review of the literature. (25886439)
2015
46
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. (25862795)
2015
47
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. (26436962)
2015
48
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. (26362252)
2015
49
Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis. (25772186)
2015
50
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. (25560911)
2015

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=)SNVPathogenic/ Likely pathogenicrs57508089GRCh37Chr 1, 156105901: 156105901
2LMNANM_ 170707.3(LMNA): c.1608+1G> ASNVPathogenicrs267607592GRCh37Chr 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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Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7CAV3, DYSF
2
Show member pathways
8.6LMNA, SGCA, SGCB, SGCG
3
Show member pathways
7.9CAPN3, LMNA, SGCA, SGCB, 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:00303159.7CAPN3, CAV3, DYSF
2dystrophin-associated glycoprotein complexGO:00160109.5CAV3, SGCA, SGCB
3dystroglycan complexGO:00160119.5SGCA, SGCB, SGCG
4sarcoglycan complexGO:00160129.5SGCA, SGCB, SGCG
5Z discGO:00300188.5CAPN3, CAV3, MYOT, TCAP
6sarcolemmaGO:00423838.3CAV3, DYSF, MYOT, SGCA, SGCB, SGCG

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:000177810.2CAV3, DYSF
2detection of muscle stretchGO:003599510.2CAV3, TCAP
3cardiac muscle cell developmentGO:00550139.9CAV3, SGCB
4positive regulation of proteolysisGO:00458629.8CAPN3, TRIM32
5muscle contractionGO:00069369.6CAV3, DYSF, MYOT, SGCA
6muscle cell cellular homeostasisGO:00467169.5CAPN3, CAV3, TRIM32
7membrane organizationGO:00610249.5SGCA, SGCB, SGCG
8sarcomere organizationGO:00452149.3CAPN3, TCAP
9muscle organ developmentGO:00075178.3CAPN3, CAV3, SGCA, SGCB, SGCG

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

idNameGO IDScoreTop Affiliating Genes
1protein complex scaffoldGO:00329479.9CAPN3, CAV3
2titin bindingGO:00314329.3CAPN3, TCAP
3structural constituent of muscleGO:00083079.3CAPN3, MYOT, TCAP

Sources for Limb-Girdle Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet