Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LGMD
MCID: LMB006
MIFTS: 55

Limb-Girdle Muscular Dystrophy (LGMD)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

About this section

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 53 25 37 29 6
Lgmd 53 25
Muscular Dystrophies, Limb-Girdle 73
Limb Girdle Muscular Dystrophy 53
Myopathic Limb-Girdle Syndrome 25
Muscular Dystrophy Limb-Girdle 55
Limb-Girdle Syndrome 25
Limb Girdle 55

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 37 H00593
UMLS 73 C0686353
Sources

Summaries for Limb-Girdle Muscular Dystrophy

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Limb-Girdle Muscular Dystrophy, also known as lgmd, is related to autosomal dominant limb-girdle muscular dystrophy type 1b and autosomal dominant limb-girdle muscular dystrophy type 1a. An important gene associated with Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Mannose type O-glycan biosynthesis. The drugs Lisinopril and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and bone, and related phenotypes are Decreased viability and Decreased viability

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

Sources

Related Diseases for Limb-Girdle Muscular Dystrophy

About this section

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show top 50) (show all 188)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1b 34.5 CAV3 DNAJB6 LMNA TNPO3
2 autosomal dominant limb-girdle muscular dystrophy type 1a 34.4 CAPN3 CAV3 FKRP MYOT TRIM32
3 autosomal dominant limb-girdle muscular dystrophy type 1g 34.4 DNAJB6 MYOT TNPO3
4 autosomal dominant limb-girdle muscular dystrophy type 1c 34.3 CAV3 DNAJB6 DYSF FKRP TNPO3
5 autosomal recessive limb-girdle muscular dystrophy type 2f 34.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
6 autosomal dominant limb-girdle muscular dystrophy type 1f 34.2 CAV3 DNAJB6 MYOT SGCB TNPO3
7 autosomal dominant limb-girdle muscular dystrophy 34.2 CAV3 DNAJB6 LMNA MYOT TNPO3
8 autosomal recessive limb-girdle muscular dystrophy type 2q 34.2 DNAJB6 MYOT PLEC TNPO3
9 autosomal recessive limb-girdle muscular dystrophy type 2b 34.1 CAPN3 CAV3 DYSF SGCA SGCB SGCG
10 autosomal recessive limb-girdle muscular dystrophy type 2h 34.1 CAPN3 FKRP MYOT SGCB SGCG TRIM32
11 autosomal recessive limb-girdle muscular dystrophy type 2c 34.1 CAPN3 DYSF SGCA SGCB SGCD SGCG
12 autosomal recessive limb-girdle muscular dystrophy type 2j 34.1 CAPN3 FKRP MYOT SGCB TTN
13 autosomal recessive limb-girdle muscular dystrophy type 2g 34.0 CAPN3 DYSF MYOT SGCB SGCG TCAP
14 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 ANO5 POMGNT1 TNPO3
15 muscular dystrophy, limb-girdle, autosomal dominant 1 33.9 CAV3 DNAJB6 MYOT SGCB TNPO3
16 autosomal recessive limb-girdle muscular dystrophy type 2d 33.9 CAPN3 DYSF FKRP SGCA SGCB SGCD
17 autosomal recessive limb-girdle muscular dystrophy type 2l 33.8 ANO5 DYSF FKRP FKTN POMT1 SGCB
18 muscular dystrophy-dystroglycanopathy , type c, 1 33.8 ANO5 POMT1 TNPO3
19 muscular dystrophy-dystroglycanopathy , type c, 5 33.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
20 muscular dystrophy-dystroglycanopathy , type c, 4 33.7 ANO5 FKRP FKTN POMT1
21 autosomal recessive limb-girdle muscular dystrophy type 2a 33.7 CAPN3 DNAJB6 DYSF FKRP MYOT SGCA
22 muscular dystrophy, limb-girdle, type 1h 33.6 DNAJB6 MYOT TNPO3
23 muscular dystrophy-dystroglycanopathy , type c, 2 33.6 ANO5 POMT1 TNPO3
24 autosomal recessive limb-girdle muscular dystrophy 33.6 ANO5 CAPN3 CAV3 DYSF FKRP POMT1
25 muscular dystrophy, limb-girdle, autosomal recessive 7 33.5 CAPN3 DYSF FKRP MYOT TCAP TRIM32
26 muscular dystrophy, limb-girdle, autosomal recessive 2 33.4 CAPN3 CAV3 DYSF FKRP MYOT SGCA
27 muscular dystrophy, limb-girdle, autosomal recessive 8 33.3 CAPN3 DYSF FKRP TCAP TRIM32 TTN
28 muscular dystrophy, limb-girdle, autosomal recessive 6 33.2 CAPN3 DYSF FKRP SGCA SGCB SGCD
29 dysferlinopathy 32.9 CAPN3 DYSF
30 muscular dystrophy, becker type 32.7 DYSF FKTN SGCA
31 myopathy, myofibrillar, 3 32.4 DNAJB6 MYOT TTN
32 myopathy 31.5 CAPN3 CAV3 DYSF MYOT TTN
33 myositis 31.0 CAPN3 DYSF TTN
34 bethlem myopathy 1 30.9 CAPN3 DYSF LMNA
35 muscular dystrophy-dystroglycanopathy 30.7 FKRP POMGNT1 POMT1
36 neuromuscular disease 30.6 LMNA MYOT TTN
37 isolated hyperckemia 30.6 ANO5 CAPN3 CAV3 FKRP TCAP
38 muscular dystrophy 30.4 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP
39 muscular dystrophy, congenital, lmna-related 30.4 FKRP FKTN LMNA POMGNT1 POMT1 TTN
40 miyoshi muscular dystrophy 30.4 ANO5 CAPN3 CAV3 DYSF MYOT TTN
41 walker-warburg syndrome 30.3 FKRP FKTN POMGNT1 POMT1 SGCA
42 dilated cardiomyopathy 30.1 FKRP FKTN LMNA SGCA SGCB SGCD
43 polyglucosan body myopathy 1 with or without immunodeficiency 30.1 CAPN3 FKRP
44 myofibrillar myopathy 29.9 DNAJB6 LMNA MYOT TCAP TTN
45 autosomal recessive limb-girdle muscular dystrophy type 2r 12.8
46 autosomal recessive limb-girdle muscular dystrophy type 2w 12.7
47 autosomal recessive limb-girdle muscular dystrophy type 2x 12.6
48 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.6
49 muscular dystrophy, limb-girdle, autosomal recessive 1 12.6
50 muscular dystrophy, limb-girdle, autosomal recessive 5 12.5

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



Diseases related to Limb-Girdle Muscular Dystrophy
Sources

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy

About this section

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.17 CAPN3
2 Decreased viability GR00106-A-0 10.17 DNAJB6
3 Decreased viability GR00221-A-2 10.17 TTN
4 Decreased viability GR00221-A-4 10.17 DYSF TTN
5 Decreased viability GR00240-S-1 10.17 LMNA TCAP
6 Decreased viability GR00301-A 10.17 DYSF
7 Decreased viability GR00342-S-1 10.17 TTN
8 Decreased viability GR00342-S-3 10.17 TTN
9 Decreased viability GR00381-A-1 10.17 FKRP SGCA TRIM32
10 Decreased viability GR00402-S-2 10.17 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP
11 no effect GR00402-S-1 9.62 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ANO5 DYSF FKRP FKTN LMNA PLEC
2 cardiovascular system MP:0005385 10.18 CAPN3 CAV3 FKRP LMNA PLEC POMGNT1
3 homeostasis/metabolism MP:0005376 10.03 ANO5 CAPN3 CAV3 DYSF FKRP FKTN
4 cellular MP:0005384 10.02 ANO5 CAV3 FKRP FKTN LMNA PLEC
5 growth/size/body region MP:0005378 10 CAPN3 DNAJB6 FKRP FKTN LMNA PLEC
6 immune system MP:0005387 9.65 CAV3 DYSF FKRP FKTN LMNA PLEC
7 muscle MP:0005369 9.55 ANO5 CAPN3 CAV3 DYSF FKRP FKTN
Sources

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

About this section

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Protective Agents Phase 2, Phase 3
4 Vitamins Phase 2, Phase 3
5 Trace Elements Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Ubiquinone Phase 2, Phase 3
8 HIV Protease Inhibitors Phase 2, Phase 3
9 Cardiotonic Agents Phase 2, Phase 3
10
protease inhibitors Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Micronutrients Phase 2, Phase 3
13 Tin Fluorides Phase 1, Phase 2
14 Vaccines Phase 1

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Not yet recruiting NCT03783923 Phase 3 Deflazacort;Placebo
3 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
4 Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
5 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
6 Gene Transfer Clinical Trial for LGMD2E (Beta-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
7 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
8 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
9 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
10 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
11 Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy Completed NCT00873782 Phase 1
12 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
13 Cell Therapy in Limb Girdle Muscular Dystrophy Withdrawn NCT02245711 Phase 1
14 Stem Cell Therapy in Limb Girdle Muscular Dystrophy Withdrawn NCT02050776 Phase 1
15 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
16 Limb Girdle Muscular Dystrophy (LGMD) Natural History Completed NCT01783509
17 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
18 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
19 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
20 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
21 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
22 Cardiac Magnetic Resonance in Children With Muscular Dystrophy Completed NCT01081080
23 Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
24 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
25 Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
26 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
27 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028 Not Applicable
28 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Sources

Genetic Tests for Limb-Girdle Muscular Dystrophy

About this section

Genetic tests related to Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy 29 DYSF SGCB SGCD
Sources

Anatomical Context for Limb-Girdle Muscular Dystrophy

About this section

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

41
Skeletal Muscle, Heart, Bone, Eye, Myeloid, Brain, Tongue
Sources

Publications for Limb-Girdle Muscular Dystrophy

About this section

Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 538)
# Title Authors Year
1
Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study. ( 29688081 )
2018
2
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report. ( 29387327 )
2018
3
Advanced Dilated Cardiomyopathy in a Patient With Hutterite Limb-Girdle Muscular Dystrophy: Use of a Left Ventricular Assist Device. ( 29626101 )
2018
4
Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy. ( 29545480 )
2018
5
Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia. ( 29966189 )
2018
6
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. ( 29685414 )
2018
7
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. ( 29910097 )
2018
8
Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L. ( 29794579 )
2018
9
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. ( 29476695 )
2018
10
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018
11
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. ( 29797799 )
2018
12
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. ( 29246662 )
2018
13
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. ( 29794729 )
2018
14
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ( 29935994 )
2018
15
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. ( 29759638 )
2018
16
Repairing folding-defective I+-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D. ( 29351619 )
2018
17
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement. ( 30007747 )
2018
18
Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. ( 30028523 )
2018
19
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. ( 30105108 )
2018
20
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. ( 30107846 )
2018
21
Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient. ( 30127231 )
2018
22
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. ( 30232282 )
2018
23
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. ( 30235762 )
2018
24
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. ( 30323756 )
2018
25
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. ( 30345904 )
2018
26
Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene. ( 30415788 )
2018
27
A rare presentation of meralgia paraesthetica in limb girdle muscular dystrophy. ( 28480792 )
2018
28
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. ( 29970176 )
2018
29
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. ( 30003095 )
2018
30
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. ( 30208948 )
2018
31
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. ( 28478914 )
2017
32
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. ( 27184587 )
2017
33
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. ( 28786117 )
2017
34
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
35
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
36
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. ( 28615910 )
2017
37
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. ( 28103310 )
2017
38
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. ( 28797108 )
2017
39
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. ( 28883879 )
2017
40
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
41
Limb-girdle muscular dystrophy: What nurses need to know. ( 28640052 )
2017
42
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation. ( 28794355 )
2017
43
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset. ( 28785732 )
2017
44
Skeletal Muscle Contractile Properties in a Novel Murine Model for Limb Girdle Muscular Dystrophy 2i. ( 28860175 )
2017
45
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
46
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). ( 29034878 )
2017
47
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
48
Limb girdle muscular dystrophy due to mutations in<i>POMT2</i>. ( 29175898 )
2017
49
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated I+-dystroglycan levels in patients homozygous for common FKRP mutation. ( 28479227 )
2017
50
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. ( 29159199 )
2017
Sources

Variations for Limb-Girdle Muscular Dystrophy

About this section

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
3 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh37 Chromosome 3, 8787263: 8787263
4 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh38 Chromosome 3, 8745577: 8745577
5 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
6 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
7 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
8 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
9 SGCD NM_000337.5(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh37 Chromosome 5, 156021949: 156021949
10 SGCD NM_000337.5(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh38 Chromosome 5, 156594939: 156594939
11 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh37 Chromosome 1, 156107024: 156107024
12 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh38 Chromosome 1, 156137233: 156137233
13 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh37 Chromosome 1, 156107442: 156107442
14 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh38 Chromosome 1, 156137651: 156137651
15 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh37 Chromosome 5, 155935713: 155935713
16 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh38 Chromosome 5, 156508703: 156508703
17 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
18 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh38 Chromosome 2, 178527491: 178527491
19 TTN NM_133437.4(TTN): c.76741delG (p.Glu25581Asnfs) deletion Likely pathogenic rs760768093 GRCh37 Chromosome 2, 179397982: 179397982
20 TTN NM_133437.4(TTN): c.76741delG (p.Glu25581Asnfs) deletion Likely pathogenic rs760768093 GRCh38 Chromosome 2, 178533255: 178533255
21 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh38 Chromosome 9, 116698433: 116698433
22 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh37 Chromosome 9, 119460712: 119460712
Sources

Expression for Limb-Girdle Muscular Dystrophy

About this section
Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy.
Sources

Pathways for Limb-Girdle Muscular Dystrophy

About this section

Pathways related to Limb-Girdle Muscular Dystrophy according to KEGG:

37
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514
2 Mannose type O-glycan biosynthesis hsa00515
3 Endocytosis hsa04144
4 Focal adhesion hsa04510
5 Tight junction hsa04530
6 Ubiquitin mediated proteolysis hsa04120

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

# Super pathways Score Top Affiliating Genes
1
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.04 CAPN3 LMNA SGCA SGCB SGCD SGCG
2
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.67 LMNA SGCA SGCB SGCD SGCG TTN
3
Mannose type O-glycan biosynthesis 37
10.29 FKRP FKTN POMGNT1 POMT1
Sources

GO Terms for Limb-Girdle Muscular Dystrophy

About this section

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.8 CAPN3 CAV3 DNAJB6 MYOT TCAP TTN
2 sarcoglycan complex GO:0016012 9.56 SGCA SGCB SGCD SGCG
3 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
4 dystroglycan complex GO:0016011 9.46 SGCA SGCB SGCD SGCG
5 I band GO:0031674 9.4 TCAP TTN
6 dystrophin-associated glycoprotein complex GO:0016010 9.35 CAV3 FKRP SGCA SGCB SGCD
7 sarcolemma GO:0042383 9.28 CAV3 DYSF FKRP MYOT PLEC SGCA

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.76 FKRP FKTN POMGNT1 POMT1
2 skeletal muscle tissue regeneration GO:0043403 9.61 DYSF SGCA
3 cardiac muscle tissue morphogenesis GO:0055008 9.61 TCAP TTN
4 protein O-linked glycosylation GO:0006493 9.61 FKTN POMGNT1 POMT1
5 cardiac myofibril assembly GO:0055003 9.6 TCAP TTN
6 positive regulation of proteolysis GO:0045862 9.59 CAPN3 TRIM32
7 cardiac muscle fiber development GO:0048739 9.58 TCAP TTN
8 heart contraction GO:0060047 9.58 SGCD SGCG
9 sarcomere organization GO:0045214 9.58 CAPN3 TCAP TTN
10 skeletal muscle thin filament assembly GO:0030240 9.57 TCAP TTN
11 muscle fiber development GO:0048747 9.56 DYSF SGCB
12 cardiac muscle hypertrophy GO:0003300 9.55 TCAP TTN
13 muscle contraction GO:0006936 9.55 CAV3 DYSF MYOT SGCA TTN
14 skeletal muscle myosin thick filament assembly GO:0030241 9.54 TCAP TTN
15 regulation of calcium ion import GO:0090279 9.52 CAV3 DYSF
16 cardiac muscle cell development GO:0055013 9.51 CAV3 SGCB
17 muscle cell cellular homeostasis GO:0046716 9.5 CAPN3 CAV3 TRIM32
18 plasma membrane repair GO:0001778 9.49 CAV3 DYSF
19 T-tubule organization GO:0033292 9.48 CAV3 DYSF
20 protein O-linked mannosylation GO:0035269 9.43 FKRP FKTN POMT1
21 sarcomerogenesis GO:0048769 9.37 TCAP TTN
22 muscle organ development GO:0007517 9.17 CAPN3 CAV3 FKTN SGCA SGCB SGCD
23 detection of muscle stretch GO:0035995 9.13 CAV3 TCAP TTN

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.02 CAPN3 MYOT PLEC TCAP TTN
2 titin binding GO:0031432 8.96 CAPN3 TCAP
Sources

Sources for Limb-Girdle Muscular Dystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....