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MCID: LMB006
MIFTS: 55

Limb-Girdle Muscular Dystrophy

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 77 54 26 38 30 6
Lgmd 54 26
Muscular Dystrophies, Limb-Girdle 74
Limb Girdle Muscular Dystrophy 54
Myopathic Limb-Girdle Syndrome 26
Muscular Dystrophy Limb-Girdle 56
Limb-Girdle Syndrome 26
Limb Girdle 56

Classifications:

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


External Ids:

KEGG 38 H00593
UMLS 74 C0686353
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Summaries for Limb-Girdle Muscular Dystrophy

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NIH Rare Diseases : 54 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 2q and autosomal dominant limb-girdle muscular dystrophy. 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 Deflazacort have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and eye, and related phenotypes are no effect and behavior/neurological

Genetics Home Reference : 26 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 : 77 Limb-girdle muscular dystrophy (LGMD) or Erb''s muscular dystrophy is a genetically and clinically... more...

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Related Diseases for Limb-Girdle Muscular Dystrophy

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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 25 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 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c

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

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2q 34.6 DNAJB6 MYOT PLEC
2 autosomal dominant limb-girdle muscular dystrophy 34.5 CAV3 DNAJB6 LMNA MYOT
3 muscular dystrophy-dystroglycanopathy , type c, 1 34.4 ANO5 POMT1
4 autosomal recessive limb-girdle muscular dystrophy type 2f 34.4 CAPN3 DYSF SGCA SGCB SGCD SGCG
5 autosomal recessive limb-girdle muscular dystrophy type 2j 34.3 CAPN3 FKRP MYOT SGCB TTN
6 muscular dystrophy, limb-girdle, type 1h 34.3 DNAJB6 MYOT
7 autosomal recessive limb-girdle muscular dystrophy type 2c 34.2 CAPN3 DYSF SGCA SGCB SGCD SGCG
8 muscular dystrophy-dystroglycanopathy , type c, 3 34.2 ANO5 POMGNT1
9 autosomal recessive limb-girdle muscular dystrophy type 2b 34.2 CAPN3 CAV3 DYSF SGCA SGCB SGCG
10 autosomal recessive limb-girdle muscular dystrophy type 2h 34.2 CAPN3 FKRP MYOT SGCB SGCG TRIM32
11 muscular dystrophy-dystroglycanopathy , type c, 2 34.1 ANO5 POMT1
12 muscular dystrophy, limb-girdle, autosomal dominant 1 34.1 CAV3 DNAJB6 MYOT SGCB
13 autosomal recessive limb-girdle muscular dystrophy type 2g 34.0 CAPN3 DYSF MYOT SGCB SGCG TCAP
14 autosomal recessive limb-girdle muscular dystrophy type 2d 34.0 CAPN3 DYSF FKRP SGCA SGCB SGCD
15 autosomal recessive limb-girdle muscular dystrophy type 2l 34.0 ANO5 DYSF FKRP FKTN POMT1 SGCB
16 muscular dystrophy-dystroglycanopathy , type c, 4 33.9 ANO5 FKRP FKTN POMT1
17 myopathy, myofibrillar, 3 33.8 DNAJB6 MYOT TTN
18 autosomal recessive limb-girdle muscular dystrophy type 2a 33.7 CAPN3 DNAJB6 DYSF FKRP MYOT SGCA
19 muscular dystrophy, limb-girdle, autosomal recessive 8 33.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
20 muscular dystrophy-dystroglycanopathy , type c, 5 33.5 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32
21 muscular dystrophy, limb-girdle, autosomal recessive 7 33.4 CAPN3 DYSF FKRP MYOT TCAP TRIM32
22 autosomal recessive limb-girdle muscular dystrophy 33.3 ANO5 CAPN3 CAV3 DYSF FKRP POMT1
23 muscular dystrophy, limb-girdle, autosomal recessive 2 33.2 CAPN3 CAV3 DYSF FKRP MYOT SGCA
24 dysferlinopathy 33.0 CAPN3 DYSF
25 muscular dystrophy, limb-girdle, autosomal recessive 6 33.0 CAPN3 DYSF FKRP SGCA SGCB SGCD
26 muscular dystrophy, becker type 32.5 DYSF FKTN LAMA2 SGCA
27 ullrich congenital muscular dystrophy 1 32.3 CAPN3 LAMA2 LMNA
28 myopathy 31.6 CAPN3 CAV3 DYSF MYOT TTN
29 myositis 31.2 CAPN3 DYSF TTN
30 bethlem myopathy 1 31.0 CAPN3 DYSF LMNA
31 muscular dystrophy-dystroglycanopathy 31.0 FKRP POMGNT1 POMT1
32 tibial muscular dystrophy 30.9 CAPN3 TTN
33 polyglucosan body myopathy 1 with or without immunodeficiency 30.9 CAPN3 FKRP
34 atrial standstill 1 30.8 FKRP LMNA MYOT TTN
35 isolated hyperckemia 30.5 ANO5 CAPN3 CAV3 FKRP LAMA2 TCAP
36 neuromuscular disease 30.4 LAMA2 LMNA MYOT TTN
37 muscular dystrophy, congenital, lmna-related 30.2 FKRP FKTN LAMA2 LMNA POMGNT1 POMT1
38 myofibrillar myopathy 30.1 DNAJB6 LMNA MYOT TCAP TTN
39 walker-warburg syndrome 30.1 FKRP FKTN LAMA2 POMGNT1 POMT1 SGCA
40 muscular dystrophy-dystroglycanopathy , type a, 4 30.0 FKRP FKTN LAMA2 POMGNT1 POMT1
41 miyoshi muscular dystrophy 30.0 ANO5 CAPN3 CAV3 DYSF LAMA2 MYOT
42 dilated cardiomyopathy 29.5 FKRP FKTN LAMA2 LMNA SGCA SGCB
43 muscular dystrophy 29.3 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP
44 limb-girdle muscular dystrophy type 1b 12.8
45 limb-girdle muscular dystrophy type 1a 12.8
46 autosomal recessive limb-girdle muscular dystrophy type 2w 12.7
47 limb-girdle muscular dystrophy type 1c 12.7
48 autosomal recessive limb-girdle muscular dystrophy type 2x 12.7
49 muscular dystrophy, limb-girdle, autosomal recessive 1 12.6
50 muscular dystrophy, limb-girdle, autosomal dominant 3 12.6

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



Diseases related to Limb-Girdle Muscular Dystrophy
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Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ANO5 CAPN3 CAV3 DNAJB6 DYSF FKRP

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ANO5 DYSF FKRP FKTN LAMA2 LMNA
2 cardiovascular system MP:0005385 10.18 CAPN3 CAV3 FKRP LMNA PLEC POMGNT1
3 cellular MP:0005384 10.06 ANO5 CAV3 FKRP FKTN LAMA2 LMNA
4 homeostasis/metabolism MP:0005376 10.06 ANO5 CAPN3 CAV3 DYSF FKRP FKTN
5 growth/size/body region MP:0005378 10.03 CAPN3 DNAJB6 FKRP FKTN LAMA2 LMNA
6 immune system MP:0005387 9.7 CAV3 DYSF FKRP FKTN LAMA2 LMNA
7 muscle MP:0005369 9.58 ANO5 CAPN3 CAV3 DYSF FKRP FKTN
Sources

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 20)
# 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
Deflazacort Approved, Investigational Phase 2, Phase 3,Phase 3 14484-47-0
3
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
4 Antihypertensive Agents Phase 2, Phase 3
5 Nutrients Phase 2, Phase 3
6 HIV Protease Inhibitors Phase 2, Phase 3
7
protease inhibitors Phase 2, Phase 3
8 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
9 Cardiotonic Agents Phase 2, Phase 3
10 Trace Elements Phase 2, Phase 3
11 Vitamins Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Ubiquinone Phase 2, Phase 3
14 Micronutrients Phase 2, Phase 3
15 Immunologic Factors Phase 2, Phase 3,Phase 3
16 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
18 Tin Fluorides Phase 1, Phase 2
19 Vaccines Phase 1
20 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 33)
# 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 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
3 A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Not yet recruiting NCT03783923 Phase 3 Deflazacort;Placebo
4 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
5 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
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
7 Gene Transfer Clinical Trial for LGMD2E (Beta-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
8 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
9 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
10 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
11 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
12 Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy Completed NCT00873782 Phase 1
13 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
14 Cell Therapy in Limb Girdle Muscular Dystrophy Withdrawn NCT02245711 Phase 1
15 Stem Cell Therapy in Limb Girdle Muscular Dystrophy Withdrawn NCT02050776 Phase 1
16 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
17 Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
18 Limb Girdle Muscular Dystrophy (LGMD) Natural History Completed NCT01783509
19 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
20 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
21 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
22 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
23 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
24 Cardiac Magnetic Resonance in Children With Muscular Dystrophy Completed NCT01081080
25 Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
26 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
27 Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
28 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
29 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028 Not Applicable
30 User-centred Assistive System for Arm Functions in Neuromuscular Subjects Recruiting NCT03127241 Not Applicable
31 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS) Active, not recruiting NCT02897921
32 Limb-Girdle Muscular Dystrophy Type 2I in Norway Not yet recruiting NCT03930628
33 Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I Not yet recruiting NCT03842878

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

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Genetic Tests for Limb-Girdle Muscular Dystrophy

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Genetic tests related to Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy 30 DYSF SGCB SGCD
Sources

Anatomical Context for Limb-Girdle Muscular Dystrophy

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

42
Skeletal Muscle, Bone, Eye, Myeloid, Heart, Testes, Smooth Muscle
Sources

Publications for Limb-Girdle Muscular Dystrophy

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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 570)
# Title Authors Year
1
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3. ( 31011535 )
2019
2
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. ( 30588482 )
2019
3
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. ( 30604053 )
2019
4
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. ( 30684953 )
2019
5
Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion. ( 30838895 )
2019
6
Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H. ( 30884854 )
2019
7
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy. ( 30963254 )
2019
8
Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins. ( 30989758 )
2019
9
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. ( 31034989 )
2019
10
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. ( 31071488 )
2019
11
Demembranated Skeletal and Cardiac Fibers Produce Less Force with Altered Cross-Bridge Kinetics in a Mouse Model for Limb-Girdle Muscular Dystrophy 2i. ( 31091146 )
2019
12
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. ( 31105274 )
2019
13
The Caveolin-3 P104L mutation in LGMD-1C patients inhibits non-insulin-stimulated glucose metabolism and growth but promotes myocyte proliferation. ( 30958599 )
2019
14
Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy. ( 29545480 )
2018
15
Advanced Dilated Cardiomyopathy in a Patient With Hutterite Limb-Girdle Muscular Dystrophy: Use of a Left Ventricular Assist Device. ( 29626101 )
2018
16
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. ( 30345904 )
2018
17
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
18
SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report. ( 30733730 )
2018
19
Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report. ( 30788312 )
2018
20
A rare presentation of meralgia paraesthetica in limb girdle muscular dystrophy. ( 28480792 )
2018
21
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2018
22
Limb girdle muscular dystrophy due to mutations in POMT2. ( 29175898 )
2018
23
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
24
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D. ( 29351619 )
2018
25
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report. ( 29387327 )
2018
26
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. ( 29476695 )
2018
27
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. ( 29685414 )
2018
28
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
29
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. ( 29759638 )
2018
30
Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L. ( 29794579 )
2018
31
Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. ( 29794729 )
2018
32
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. ( 29797799 )
2018
33
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018
34
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. ( 29910097 )
2018
35
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ( 29935994 )
2018
36
Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia. ( 29966189 )
2018
37
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. ( 29970176 )
2018
38
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
39
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
40
Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. ( 30028523 )
2018
41
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. ( 30105108 )
2018
42
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. ( 30107846 )
2018
43
Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient. ( 30127231 )
2018
44
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. ( 30232282 )
2018
45
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. ( 30235762 )
2018
46
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations. ( 30323756 )
2018
47
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. ( 30208948 )
2018
48
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. ( 30564623 )
2018
49
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
50
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
Sources

Variations for Limb-Girdle Muscular Dystrophy

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ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

6 (show all 26)
# 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 TTN NM_133378.4(TTN): c.39544G> A (p.Val13182Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72677232 GRCh37 Chromosome 2, 179482937: 179482937
8 TTN NM_133378.4(TTN): c.39544G> A (p.Val13182Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72677232 GRCh38 Chromosome 2, 178618210: 178618210
9 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
10 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
11 SGCD NM_172244.2(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh37 Chromosome 5, 156021949: 156021949
12 SGCD NM_172244.2(SGCD): c.390delA (p.Ala131Profs) deletion Likely pathogenic rs397517921 GRCh38 Chromosome 5, 156594939: 156594939
13 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh37 Chromosome 1, 156107024: 156107024
14 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh38 Chromosome 1, 156137233: 156137233
15 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh37 Chromosome 1, 156107442: 156107442
16 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh38 Chromosome 1, 156137651: 156137651
17 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh37 Chromosome 5, 155935713: 155935713
18 SGCD NM_000337.5(SGCD): c.294+1G> A single nucleotide variant Likely pathogenic rs727503422 GRCh38 Chromosome 5, 156508703: 156508703
19 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
20 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh38 Chromosome 2, 178527491: 178527491
21 TTN NM_001267550.2(TTN): c.103360delG (p.Glu34454Asnfs) deletion Likely pathogenic rs760768093 GRCh37 Chromosome 2, 179397982: 179397982
22 TTN NM_001267550.2(TTN): c.103360delG (p.Glu34454Asnfs) deletion Likely pathogenic rs760768093 GRCh38 Chromosome 2, 178533255: 178533255
23 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh37 Chromosome 9, 119460712: 119460712
24 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh38 Chromosome 9, 116698433: 116698433
25 TTN NM_001256850.1(TTN): c.66808A> G (p.Lys22270Glu) single nucleotide variant Uncertain significance rs763131148 GRCh37 Chromosome 2, 179439128: 179439128
26 TTN NM_001256850.1(TTN): c.66808A> G (p.Lys22270Glu) single nucleotide variant Uncertain significance rs763131148 GRCh38 Chromosome 2, 178574401: 178574401
Sources

Expression for Limb-Girdle Muscular Dystrophy

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

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

38
# 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
Allograft rejection 38 1
Show member pathways
 12.39 LAMA2 SGCA SGCB SGCD SGCG
2
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 11.9 CAPN3 LAMA2 LMNA SGCA SGCB SGCD
3
Dilated cardiomyopathy (DCM) 38
Show member pathways
 11.41 LAMA2 LMNA SGCA SGCB SGCD SGCG
4
Mannose type O-glycan biosynthesis 38
10.82 FKRP FKTN POMGNT1 POMT1
Sources

GO Terms for Limb-Girdle Muscular Dystrophy

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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 sarcolemma GO:0042383 9.32 CAV3 DYSF FKRP LAMA2 MYOT PLEC
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 CAV3 SGCA SGCB SGCD

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 9.23 CAPN3 CAV3 FKTN LAMA2 SGCA SGCB
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 titin binding GO:0031432 9.16 CAPN3 TCAP
2 structural molecule activity GO:0005198 9.13 CAV3 LAMA2 PLEC
3 structural constituent of muscle GO:0008307 9.02 CAPN3 MYOT PLEC TCAP TTN
Sources

Sources for Limb-Girdle Muscular Dystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
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