MCID: LMB006
MIFTS: 54

Limb-Girdle Muscular Dystrophy

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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:



External Ids:

KEGG 37 H00593
UMLS 73 C0686353

Summaries for Limb-Girdle Muscular Dystrophy

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 recessive limb-girdle muscular dystrophy type 2e and autosomal dominant limb-girdle muscular dystrophy type 1g. 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 testes, 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...

Related Diseases for Limb-Girdle Muscular Dystrophy

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z 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 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
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 138)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2e 34.7 CAPN3 SGCB SGCD SGCG
2 autosomal dominant limb-girdle muscular dystrophy type 1g 34.3 DNAJB6 MYOT TNPO3
3 autosomal recessive limb-girdle muscular dystrophy type 2f 34.1 CAPN3 DYSF SGCA SGCB SGCD SGCG
4 muscular dystrophy, limb-girdle, type 2c 34.0 CAPN3 DYSF SGCA SGCD SGCG
5 muscular dystrophy, limb-girdle, type 1c 34.0 CAV3 DYSF FKRP
6 muscular dystrophy, limb-girdle, type 2q 33.9 DNAJB6 PLEC TNPO3
7 muscular dystrophy, limb-girdle, type 2j 33.9 CAPN3 FKRP MYOT TTN
8 autosomal recessive limb-girdle muscular dystrophy type 2b 33.9 ANO5 CAPN3 CAV3 DYSF SGCA SGCG
9 muscular dystrophy-dystroglycanopathy , type c, 1 33.8 POMT1 TNPO3
10 muscular dystrophy-dystroglycanopathy , type c, 3 33.8 POMGNT1 TNPO3
11 muscular dystrophy, limb-girdle, type 1b 33.7 CAV3 DNAJB6 LMNA TNPO3
12 autosomal dominant limb-girdle muscular dystrophy 33.7 CAV3 DNAJB6 LMNA MYOT TNPO3
13 muscular dystrophy, limb-girdle, type 1h 33.6 DNAJB6 MYOT TNPO3
14 muscular dystrophy, limb-girdle, type 1f 33.6 CAV3 DNAJB6 MYOT TNPO3
15 muscular dystrophy-dystroglycanopathy , type c, 2 33.6 POMT1 TNPO3
16 muscular dystrophy-dystroglycanopathy , type c, 4 33.6 FKRP FKTN
17 autosomal recessive limb-girdle muscular dystrophy type 2h 33.4 CAPN3 DYSF FKRP MYOT SGCG TRIM32
18 muscular dystrophy, limb-girdle, type 1a 33.4 CAPN3 CAV3 FKRP MYOT TRIM32
19 dysferlinopathy 33.3 CAPN3 DYSF
20 muscular dystrophy-dystroglycanopathy , type c, 5 33.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
21 autosomal dominant limb-girdle muscular dystrophy type 1c 33.1 CAV3 DNAJB6 DYSF FKRP MYOT TNPO3
22 muscular dystrophy, limb-girdle, type 2l 33.0 ANO5 DYSF FKRP FKTN POMT1
23 muscular dystrophy, limb-girdle, type 1e 33.0 CAV3 DNAJB6 FKRP MYOT TNPO3
24 muscular dystrophy, limb-girdle, type 2d 32.9 CAPN3 DYSF FKRP SGCA SGCB SGCD
25 muscular dystrophy, limb-girdle, type 2g 32.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
26 muscular dystrophy, becker type 32.7 DYSF FKTN SGCA
27 muscular dystrophy, limb-girdle, type 2h 32.7 CAPN3 DYSF FKRP TCAP TRIM32 TTN
28 rippling muscle disease 2 32.5 CAV3 DYSF
29 autosomal recessive limb-girdle muscular dystrophy 31.9 ANO5 CAPN3 DYSF FKRP POMT1 SGCA
30 muscular dystrophy, limb-girdle, type 2b 31.5 CAPN3 CAV3 DYSF FKRP MYOT SGCA
31 muscular dystrophy, limb-girdle, type 2f 31.5 CAPN3 DYSF FKRP SGCA SGCB SGCD
32 myositis 31.4 CAPN3 DYSF TTN
33 bethlem myopathy 1 31.3 CAPN3 DYSF LMNA
34 muscular dystrophy-dystroglycanopathy 30.6 FKRP POMGNT1 POMT1
35 muscular dystrophy-dystroglycanopathy , type a, 1 30.4 FKRP FKTN POMT1
36 distal muscular dystrophy 30.2 ANO5 CAPN3 CAV3 DYSF MYOT TTN
37 isolated hyperckemia 30.2 ANO5 CAPN3 CAV3 FKRP TCAP
38 walker-warburg syndrome 29.4 FKRP FKTN POMGNT1 POMT1 SGCA
39 muscular dystrophy, congenital, lmna-related 29.3 FKRP FKTN LMNA POMGNT1 POMT1 TTN
40 dilated cardiomyopathy 28.2 FKRP FKTN LMNA SGCA SGCB SGCD
41 myopathy 27.4 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP
42 muscular dystrophy 24.9 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP
43 limb-girdle muscular dystrophy, type 1g 12.8
44 muscular dystrophy, limb-girdle, type 2a 12.7
45 muscular dystrophy, limb-girdle, type 2r 12.2
46 muscular dystrophy, limb-girdle, type 2x 12.1
47 muscular dystrophy, limb-girdle, type 2w 12.1
48 muscular dystrophy-dystroglycanopathy , type c, 9 12.1
49 muscular dystrophy-dystroglycanopathy , type c, 7 12.1
50 muscular dystrophy-dystroglycanopathy , type c, 14 12.1

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

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 TCAP LMNA
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 TRIM32 SGCA
10 Decreased viability GR00402-S-2 10.17 SGCD DNAJB6 SGCG DYSF TCAP TNPO3
11 no effect GR00402-S-1 9.62 SGCD DNAJB6 SGCG DYSF TCAP TNPO3

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 PLEC DYSF POMGNT1 FKRP FKTN ANO5
2 cardiovascular system MP:0005385 10.18 CAV3 PLEC POMGNT1 FKRP POMT1 SGCA
3 homeostasis/metabolism MP:0005376 10.03 CAV3 PLEC DYSF POMGNT1 FKRP FKTN
4 cellular MP:0005384 10.02 LMNA CAV3 PLEC POMGNT1 FKRP FKTN
5 growth/size/body region MP:0005378 10 DNAJB6 PLEC POMGNT1 FKRP FKTN LMNA
6 immune system MP:0005387 9.65 CAV3 PLEC DYSF FKRP POMT1 FKTN
7 muscle MP:0005369 9.55 CAV3 PLEC DYSF POMGNT1 FKRP POMT1

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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

(show all 13)
# 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 Ubiquinone Phase 2, Phase 3
4
protease inhibitors Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6 HIV Protease Inhibitors Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Antihypertensive Agents Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Tin Fluorides Phase 1, Phase 2
13 Vaccines Phase 1

Interventional clinical trials:

(show all 26)
# 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 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 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
4 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
5 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
6 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
7 Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02245711 Phase 1
8 Stem Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02050776 Phase 1
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 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
14 Limb Girdle Muscular Dystrophy (LGMD) Natural History Completed NCT01783509
15 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
16 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
17 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
18 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
19 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
20 Cardiac Magnetic Resonance in Children With Muscular Dystrophy Completed NCT01081080
21 Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
22 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
23 Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
24 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
25 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028 Not Applicable
26 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Genetic Tests for Limb-Girdle Muscular Dystrophy

Genetic tests related to Limb-Girdle Muscular Dystrophy:

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

Anatomical Context for Limb-Girdle Muscular Dystrophy

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

41
Skeletal Muscle, Heart, Testes, Bone, Myeloid, Pituitary, Monocytes

Publications for Limb-Girdle Muscular Dystrophy

Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 528)
# 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
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. ( 29794729 )
2018
13
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ( 29935994 )
2018
14
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. ( 29759638 )
2018
15
Repairing folding-defective I+-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D. ( 29351619 )
2018
16
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. ( 29970176 )
2018
17
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. ( 28478914 )
2017
18
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. ( 27184587 )
2017
19
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. ( 28786117 )
2017
20
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
21
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
22
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. ( 28615910 )
2017
23
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
24
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F. ( 28797108 )
2017
25
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. ( 28883879 )
2017
26
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
27
Limb-girdle muscular dystrophy: What nurses need to know. ( 28640052 )
2017
28
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation. ( 28794355 )
2017
29
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset. ( 28785732 )
2017
30
Skeletal Muscle Contractile Properties in a Novel Murine Model for Limb Girdle Muscular Dystrophy 2i. ( 28860175 )
2017
31
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
32
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
33
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
34
Limb girdle muscular dystrophy due to mutations in<i>POMT2</i>. ( 29175898 )
2017
35
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
36
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. ( 29159199 )
2017
37
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28702169 )
2017
38
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. ( 28877744 )
2017
39
SEXUALLY DIMORPHIC SKELETAL MUSCLE AND CARDIAC DYSFUNCTION IN A MOUSE MODEL OF LIMB GIRDLE MUSCULAR DYSTROPHY 2I. ( 28663375 )
2017
40
Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. ( 28750735 )
2017
41
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. ( 28666318 )
2017
42
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. ( 28803818 )
2017
43
Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy. ( 28823869 )
2017
44
Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study. ( 28848377 )
2017
45
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. ( 28827486 )
2017
46
Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F. ( 28593034 )
2017
47
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28697784 )
2017
48
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
49
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. ( 27342937 )
2016
50
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016

Variations for Limb-Girdle Muscular Dystrophy

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

6
(show all 18)
# 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 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
4 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
5 SGCD NM_000337.5(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh37 Chromosome 5, 156021949: 156021949
6 SGCD NM_000337.5(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh38 Chromosome 5, 156594939: 156594939
7 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh37 Chromosome 1, 156107024: 156107024
8 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh38 Chromosome 1, 156137233: 156137233
9 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh37 Chromosome 1, 156107442: 156107442
10 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh38 Chromosome 1, 156137651: 156137651
11 SGCD NM_172244.2(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh37 Chromosome 5, 155935713: 155935713
12 SGCD NM_172244.2(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh38 Chromosome 5, 156508703: 156508703
13 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
14 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh38 Chromosome 2, 178527491: 178527491
15 TTN NM_133437.4(TTN): c.76741delG (p.Glu25581Asnfs) deletion Likely pathogenic rs760768093 GRCh37 Chromosome 2, 179397982: 179397982
16 TTN NM_133437.4(TTN): c.76741delG (p.Glu25581Asnfs) deletion Likely pathogenic rs760768093 GRCh38 Chromosome 2, 178533255: 178533255
17 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh37 Chromosome 9, 119460712: 119460712
18 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh38 Chromosome 9, 116698433: 116698433

Expression for Limb-Girdle Muscular Dystrophy

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

Pathways for Limb-Girdle Muscular Dystrophy

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
Show member pathways
12.04 CAPN3 LMNA SGCA SGCB SGCD SGCG
2
Show member pathways
11.67 LMNA SGCA SGCB SGCD SGCG TTN
3 10.29 FKRP FKTN POMGNT1 POMT1

GO Terms for Limb-Girdle Muscular Dystrophy

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 21)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.76 FKRP FKTN POMGNT1 POMT1
2 membrane organization GO:0061024 9.67 SGCA SGCB SGCD SGCG
3 sarcomere organization GO:0045214 9.61 CAPN3 TCAP TTN
4 cardiac muscle tissue development GO:0048738 9.6 SGCD SGCG
5 positive regulation of proteolysis GO:0045862 9.59 CAPN3 TRIM32
6 cardiac myofibril assembly GO:0055003 9.58 TCAP TTN
7 cardiac muscle tissue morphogenesis GO:0055008 9.58 TCAP TTN
8 heart contraction GO:0060047 9.57 SGCD SGCG
9 cardiac muscle fiber development GO:0048739 9.56 TCAP TTN
10 cardiac muscle hypertrophy GO:0003300 9.55 TCAP TTN
11 muscle contraction GO:0006936 9.55 CAV3 DYSF MYOT SGCA TTN
12 skeletal muscle thin filament assembly GO:0030240 9.54 TCAP TTN
13 plasma membrane repair GO:0001778 9.52 CAV3 DYSF
14 muscle cell development GO:0055001 9.51 SGCD SGCG
15 muscle cell cellular homeostasis GO:0046716 9.5 CAPN3 CAV3 TRIM32
16 skeletal muscle myosin thick filament assembly GO:0030241 9.49 TCAP TTN
17 cardiac muscle cell development GO:0055013 9.48 CAV3 SGCB
18 protein O-linked mannosylation GO:0035269 9.43 FKRP FKTN POMT1
19 sarcomerogenesis GO:0048769 9.4 TCAP TTN
20 muscle organ development GO:0007517 9.17 CAPN3 CAV3 FKTN SGCA SGCB SGCD
21 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 for Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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