LGMD
MCID: LMB006
MIFTS: 56

Limb-Girdle Muscular Dystrophy (LGMD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Limb-Girdle Muscular Dystrophy

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 11 19 42 58 75 28 5 14 75 33
Lgmd 19 42 58
Muscular Dystrophies, Limb-Girdle 43 71
Limb Girdle Muscular Dystrophy 11 19
Lgmd - [limb-Girdle Muscular Dystrophy] 33
Dystrophy, Muscular, Limb-Girdle 38
Leyden-Mbius Muscular Dystrophy 11
Myopathic Limb-Girdle Syndrome 42
Muscular Dystrophy Limb-Girdle 53
Limb Girdle Muscle Dystrophy 33
Erb's Muscular Dystrophy 11
Limb-Girdle Syndrome 42
Limb-Girdle Myopathy 33
Limb Girdle 53

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/1000000 (Netherlands) 1-9/100000 (United Kingdom, Japan, Worldwide, Egypt, Spain, Ireland) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:11724
MeSH 43 D049288
NCIt 49 C84828
SNOMED-CT 68 56096001
MESH via Orphanet 44 D049288
ICD10 via Orphanet 32 G71.0
UMLS via Orphanet 72 C0686353
Orphanet 58 ORPHA263
UMLS 71 C0686353

Summaries for Limb-Girdle Muscular Dystrophy

MedlinePlus Genetics: 42 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.The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.

MalaCards based summary: Limb-Girdle Muscular Dystrophy, also known as lgmd, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and muscular dystrophy, limb-girdle, autosomal dominant 3. An important gene associated with Limb-Girdle Muscular Dystrophy is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. The drugs (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and smooth muscle, and related phenotypes are muscle and homeostasis/metabolism

GARD: 19 Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. 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. There are at least 20 different types of Limb-girdle muscular dystrophy.

Orphanet: 58 Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.

Disease Ontology: 11 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.

Wikipedia: 75 Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies... more...

Related Diseases for Limb-Girdle Muscular Dystrophy

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 451)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 33.9 TRAPPC11 SGCB CAPN3
2 muscular dystrophy, limb-girdle, autosomal dominant 3 33.8 TRAPPC11 SGCA MYOT CAV3
3 muscular dystrophy, limb-girdle, autosomal dominant 1 33.8 TCAP MYOT FLNC DYSF CAV3 CAPN3
4 muscular dystrophy-dystroglycanopathy , type c, 1 33.8 SGCG SGCB POMT1 MYOT FKTN FKRP
5 muscular dystrophy-dystroglycanopathy , type c, 5 33.8 TTN TRIM32 TCAP SGCG SGCB SGCA
6 muscular dystrophy, limb-girdle, autosomal dominant 2 33.8 TCAP SGCG SGCD SGCB SGCA MYOT
7 muscular dystrophy-dystroglycanopathy , type c, 2 33.7 POMT1 FKTN FKRP CAPN3
8 muscular dystrophy, limb-girdle, autosomal recessive 8 33.7 TTN TRIM32 TCAP FKRP DYSF CAPN3
9 muscular dystrophy-dystroglycanopathy , type c, 3 33.7 TRAPPC11 SGCA POMT1 POMGNT2 FKTN FKRP
10 muscular dystrophy, limb-girdle, autosomal recessive 2 33.7 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
11 muscular dystrophy-dystroglycanopathy , type c, 4 33.7 POMT1 MYOT FKTN FKRP DYSF CAPN3
12 muscular dystrophy-dystroglycanopathy , type c, 9 33.7 TRAPPC11 SGCB SGCA
13 muscular dystrophy-dystroglycanopathy , type c, 14 33.7 TRAPPC11 SGCB FKTN
14 muscular dystrophy, limb-girdle, autosomal recessive 7 33.6 TTN TRIM32 TCAP MYOT FKRP DYSF
15 muscular dystrophy, limb-girdle, type 1h 33.6 TRAPPC11 SGCB MYOT CAV3
16 rippling muscle disease 2 33.6 POMGNT2 FKRP DYSF DMD CAV3
17 muscular dystrophy, limb-girdle, autosomal recessive 6 33.6 TTN TRIM32 TCAP SGCG SGCD SGCB
18 muscular dystrophy, limb-girdle, autosomal recessive 4 33.6 TTN TRIM32 TCAP SGCB SGCA FKRP
19 muscular dystrophy-dystroglycanopathy , type c, 7 33.5 TRAPPC11 FKTN
20 autosomal recessive limb-girdle muscular dystrophy type 2f 33.5 TCAP SGCG SGCD SGCB SGCA FKRP
21 autosomal recessive limb-girdle muscular dystrophy type 2q 33.5 TRAPPC11 TCAP SGCA MYOT FKRP DYSF
22 autosomal recessive limb-girdle muscular dystrophy type 2b 33.5 TCAP SGCG SGCD SGCB SGCA MYOT
23 limb-girdle muscular dystrophy type 1b 33.5 LMNA CAV3
24 autosomal recessive limb-girdle muscular dystrophy type 2g 33.5 TTN TCAP SGCG SGCD SGCB SGCA
25 autosomal recessive limb-girdle muscular dystrophy type 2c 33.5 TCAP SGCG SGCD SGCB SGCA MYOT
26 autosomal recessive limb-girdle muscular dystrophy type 2x 33.5 SGCA DYSF CAV3
27 autosomal recessive limb-girdle muscular dystrophy type 2h 33.5 TRIM32 TCAP SGCG SGCD SGCB SGCA
28 myopathy, myofibrillar, 3 33.5 TTN TCAP SGCA MYOT FLNC DYSF
29 autosomal recessive limb-girdle muscular dystrophy type 2l 33.5 SGCG SGCD SGCB SGCA POMT1 MYOT
30 autosomal recessive limb-girdle muscular dystrophy type 2d 33.4 TCAP SGCG SGCD SGCB SGCA MYOT
31 autosomal recessive limb-girdle muscular dystrophy type 2a 33.4 TTN TCAP SGCG SGCD SGCB SGCA
32 autosomal dominant limb-girdle muscular dystrophy 33.4 TTN TCAP SGCB SGCA MYOT LMNA
33 autosomal recessive limb-girdle muscular dystrophy type 2w 33.4 TRAPPC11 SGCB
34 limb-girdle muscular dystrophy type 1a 33.3 TTN TRIM32 TCAP MYOT FLNC FKRP
35 autosomal recessive limb-girdle muscular dystrophy type 2j 33.3 TTN TRIM32 TCAP SGCG SGCD SGCB
36 autosomal recessive limb-girdle muscular dystrophy 33.3 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
37 myopathy, myofibrillar, 1 33.2 TTN MYOT LMNA FLNC DYSF DMD
38 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.1 SGCB SGCA POMT1 LMNA LAMA2 FKRP
39 muscular dystrophy, limb-girdle, autosomal recessive 23 33.0 TRAPPC11 LAMA2
40 dysferlinopathy 32.9 DYSF CAPN3
41 muscular dystrophy 32.7 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
42 muscular dystrophy, becker type 32.7 TTN SGCG SGCD SGCB SGCA LAMA2
43 muscular dystrophy-dystroglycanopathy , type b, 1 32.7 POMT1 POMGNT2 LAMA2 FKTN FKRP DMD
44 glycogen storage disease ii 32.7 MYOT LAMA2 FKRP DYSF DMD CAV3
45 myopathy, centronuclear, 1 32.5 TTN MYOT FLNC DYSF
46 myopathy 32.3 TTN TRIM32 TCAP SGCG SGCD SGCB
47 myopathy, centronuclear, x-linked 32.2 TTN DYSF DMD
48 muscular dystrophy-dystroglycanopathy , type a, 1 32.1 POMT1 FKTN FKRP
49 muscular dystrophy, duchenne type 32.0 TTN TCAP SGCD SGCB SGCA LAMA2
50 miyoshi muscular dystrophy 31.9 TTN TCAP SGCG SGCD SGCB SGCA

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CAPN3 CAV3 DMD DYSF FKRP FKTN
2 no effect GR00402-S-2 10.17 CAPN3 CAV3 DYSF FKRP FKTN FLNC

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.3 CAPN3 CAV3 DMD DYSF FKRP FKTN
2 homeostasis/metabolism MP:0005376 10.25 CAPN3 CAV3 DMD DYSF FKRP FKTN
3 growth/size/body region MP:0005378 10.07 CAPN3 CAV3 DMD FKRP FKTN FLNC
4 cellular MP:0005384 9.93 CAV3 DMD DYSF FKRP FKTN LAMA2
5 cardiovascular system MP:0005385 9.77 CAPN3 CAV3 DMD FKRP FLNC LMNA
6 behavior/neurological MP:0005386 9.47 DMD DYSF FKRP FKTN FLNC LAMA2

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
2
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
3
Deflazacort Approved, Investigational Phase 3 14484-47-0 26709 189821
4
Ubidecarenone Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
5 Cardiotonic Agents Phase 2, Phase 3
6 Vitamins Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Antihypertensive Agents Phase 2, Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
10 Ubiquinone Phase 2, Phase 3
11 HIV Protease Inhibitors Phase 2, Phase 3
12 Micronutrients Phase 2, Phase 3
13 Protective Agents Phase 2, Phase 3
14
protease inhibitors Phase 2, Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Immunosuppressive Agents Phase 3
17 Immunologic Factors Phase 3
18
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
19
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
20
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
21
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
22
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
23
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
24
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
25
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
26
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
27 Antineoplastic Agents, Hormonal Phase 2
28 Hormones Phase 2
29 Hormone Antagonists Phase 2
30 glucocorticoids Phase 2
31
Methylprednisolone Acetate Phase 2 584547
32 Pharmaceutical Solutions

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
2 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
3 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
4 A Multicenter Open-Label Study on the Safety and Efficacy of Deflazacort (Emflaza) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Terminated NCT03783923 Phase 3 Deflazacort
5 Phase I/IIA Gene Transfer Clinical Trial for LGMD2D (Alpha-Sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
7 An Open-Label Extension 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
8 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
9 A Phase 1-2 Multicenter Study (2-stages) to Evaluate the Safety and Efficacy of Intravenous GNT0006, Adeno-associated Viral Vector Carrying the FKRP Gene, in Patients With FKRP-related Limb-girdle Muscular Dystrophy (LGMDR9, Formerly LGMD2I) Recruiting NCT05224505 Phase 1, Phase 2
10 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
11 A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (β-Sarcoglycan Deficiency) Active, not recruiting NCT03652259 Phase 1, Phase 2
12 An Open Label Phase 2 Study of BBP-418 in Patients With Limb Girdle Muscular Dystrophy Type 2I (MLB-01-003) Active, not recruiting NCT04800874 Phase 2 BBP-418
13 A Phase 1/2, Double-blind, Randomized, Placebo-controlled, Dose-escalation Study to Evaluate the Safety of LION-101 Gene Therapy in Adult Subjects (18-65 Years) With Genetic Confirmation of Limb Girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9) - Part 1 Not yet recruiting NCT05230459 Phase 1, Phase 2
14 Phase 1/2a First-in-human Trial Evaluating Autologous Gene-edited Muscle Stem Cells in Limb Girdle Muscular Dystrophies (GenPHSats-bASKet) Not yet recruiting NCT05588401 Phase 1, Phase 2
15 Safety and Feasibility of Transvenous Limb Perfusion With Normal Saline in Human Muscular Dystrophy Completed NCT00873782 Phase 1
16 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
17 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
18 The Role of Cell Therapy in Modifying the Course of Limb Girdle Muscular Dystrophy- A Longitudinal 5-year Study Withdrawn NCT02050776 Phase 1
19 Intrathecal Autologous Mononuclear Cell Therapy for Limb Girdle Muscular Dystrophy Withdrawn NCT02245711 Phase 1
20 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Unknown status NCT03492346
21 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
22 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Completed NCT04349566
23 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
24 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
25 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
26 Biomarker Development in LGMD2i Completed NCT04202627
27 PITT0110 - Cardiac Magnetic Resonance: A Parallel Protocol to Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01081080
28 PITT1109: Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
29 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
30 Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy Completed NCT01783509
31 USEFUL: User-centred Assistive SystEm for Arm Functions in neUromuscuLar Subjects Completed NCT03127241
32 Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E Completed NCT04509609
33 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
34 Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members Recruiting NCT00390104
35 Limb-Girdle Video Assessment Concept Elicitation and Feasibility Study Recruiting NCT05528757
36 Global Fukutin-Related Protein Registry Recruiting NCT04001595
37 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926
38 GRASP-LGMD: Defining Clinical Endpoints in LGMD Recruiting NCT03981289
39 MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants Recruiting NCT05102799
40 Schulze Muscular Dystrophy Ability Clinical Study Recruiting NCT05409079
41 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Recruiting NCT01403402
42 Characterization and Identification of Motor Parameters Using Instrumental Assessment in Patients With Limb Girdle Muscular Dystrophy Recruiting NCT04772027
43 Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study Active, not recruiting NCT03930628
44 3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants Active, not recruiting NCT05206617
45 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I Active, not recruiting NCT03842878
46 International Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077
47 Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation Enrolling by invitation NCT04824040
48 A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China Enrolling by invitation NCT04989751
49 GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1 Not yet recruiting NCT05618080

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies, limb-girdle

Genetic Tests for Limb-Girdle Muscular Dystrophy

Genetic tests related to Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy 28 DYSF SGCB SGCD

Anatomical Context for Limb-Girdle Muscular Dystrophy

Organs/tissues related to Limb-Girdle Muscular Dystrophy:

MalaCards : Heart, Skeletal Muscle, Smooth Muscle, Bone, Spinal Cord, Brain, Eye

Publications for Limb-Girdle Muscular Dystrophy

Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 3045)
# Title Authors PMID Year
1
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. 53 62 5
15833432 2005
2
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. 53 62 5
15580560 2005
3
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 53 62 5
15574464 2005
4
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 53 62 5
15221789 2004
5
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 53 62 5
11741828 2001
6
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. 62 5
31119192 2019
7
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. 62 5
27707803 2017
8
An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement. 62 5
26833294 2016
9
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. 62 5
26574668 2015
10
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations. 62 5
26363967 2015
11
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. 62 5
25560911 2015
12
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. 62 5
26322222 2015
13
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. 62 5
25048216 2014
14
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 62 5
24447024 2014
15
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. 62 5
23576288 2013
16
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. 62 5
23591631 2013
17
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. 62 5
19820980 2010
18
Mutations alter secretion of fukutin-related protein. 62 5
19900540 2010
19
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. 62 5
19835634 2009
20
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 62 5
18854869 2009
21
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 62 5
17554798 2007
22
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. 62 5
18593008 2006
23
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 62 5
16634037 2006
24
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 62 5
16141003 2005
25
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 62 5
15060126 2004
26
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 62 5
12666124 2003
27
Cortical heterotopia in LGMD2I. 5
22264518 2012
28
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 5
21228398 2011
29
Transcriptional and translational effects of intronic CAPN3 gene mutations. 5
20635405 2010
30
Reverse protein arrays as novel approach for protein quantification in muscular dystrophies. 53 62
20304647 2010
31
Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts. 53 62
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32
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 53 62
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33
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 53 62
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34
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 53 62
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35
Zebrafish models for human FKRP muscular dystrophies. 53 62
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36
Caveolinopathies: from the biology of caveolin-3 to human diseases. 53 62
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Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. 53 62
19953532 2010
38
R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. 53 62
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39
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 53 62
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Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 53 62
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Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 53 62
19154541 2009
42
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 53 62
19458539 2009
43
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. 53 62
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44
[Amyloidosis in muscular dystrophy]. 53 62
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Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 53 62
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46
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 53 62
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47
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 53 62
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48
Analysis of the DYSF mutational spectrum in a large cohort of patients. 53 62
18853459 2009
49
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. 53 62
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50
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. 53 62
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Variations for Limb-Girdle Muscular Dystrophy

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAPN3 NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) SNV Pathogenic
282173 rs149914792 GRCh37: 15:42691799-42691799
GRCh38: 15:42399601-42399601
2 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic
4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
3 TTN-AS1, TTN NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) SNV Likely Pathogenic
47008 rs72677232 GRCh37: 2:179482937-179482937
GRCh38: 2:178618210-178618210
4 TTN-AS1, TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely Pathogenic
202529 rs757082154 GRCh37: 2:179392218-179392218
GRCh38: 2:178527491-178527491
5 BVES NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) SNV Likely Pathogenic
626314 rs796206315 GRCh37: 6:105577343-105577343
GRCh38: 6:105129468-105129468
6 TTN-AS1, TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) DEL Likely Pathogenic
374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
7 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) SNV Likely Pathogenic
474342 rs140403642 GRCh37: 4:184603963-184603963
GRCh38: 4:183682810-183682810
8 ASTN2, TRIM32 NM_012210.4(TRIM32):c.691del (p.Ala231fs) DEL Likely Pathogenic
498076 rs747685252 GRCh37: 9:119460712-119460712
GRCh38: 9:116698433-116698433
9 ANO5 NM_213599.3(ANO5):c.395A>T (p.Lys132Met) SNV Uncertain Significance
977163 rs1852872996 GRCh37: 11:22248879-22248879
GRCh38: 11:22227333-22227333
10 ATL1 NM_015915.5(ATL1):c.1061C>T (p.Ala354Val) SNV Uncertain Significance
1332905 GRCh37: 14:51089908-51089908
GRCh38: 14:50623190-50623190
11 ANO5 NM_213599.3(ANO5):c.2521C>G (p.His841Asp) SNV Uncertain Significance
195705 rs781027702 GRCh37: 11:22301090-22301090
GRCh38: 11:22279544-22279544
12 CAPN3 NM_000070.3(CAPN3):c.847A>G (p.Met283Val) SNV Uncertain Significance
1001331 rs756786521 GRCh37: 15:42682196-42682196
GRCh38: 15:42389998-42389998
13 TTN-AS1, TTN NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu) SNV Uncertain Significance
561990 rs763131148 GRCh37: 2:179439128-179439128
GRCh38: 2:178574401-178574401
14 CAV3, OXTR NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Likely Benign
8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
15 CAV3, OXTR NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) SNV Benign
8278 rs72546667 GRCh37: 3:8787263-8787263
GRCh38: 3:8745577-8745577

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TTN TCAP DYSF DMD CAV3
2
Show member pathways
12.23 SGCG SGCD SGCB SGCA LMNA LAMA2
3
Show member pathways
11.2 TTN TCAP DMD
4 10.98 SGCG SGCD SGCB SGCA LAMA2 DMD
5 10.65 LAMA2 DMD
6
Show member pathways
10.21 FKTN FKRP

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 10.17 TTN TCAP MYOT FLNC DMD CAV3
2 T-tubule GO:0030315 9.88 DYSF CAV3 CAPN3
3 sarcoglycan complex GO:0016012 9.86 SGCG SGCD SGCB SGCA
4 dystrophin-associated glycoprotein complex GO:0016010 9.85 CAV3 DMD SGCA SGCB SGCD
5 titin-telethonin complex GO:1990733 9.67 TTN TCAP
6 sarcolemma GO:0042383 9.66 SGCG SGCD SGCB SGCA MYOT LAMA2
7 dystroglycan complex GO:0016011 9.26 SGCG SGCD SGCB SGCA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 10.03 POMT1 POMGNT2 FKTN
2 sarcomere organization GO:0045214 9.97 TTN TCAP FLNC CAPN3
3 protein glycosylation GO:0006486 9.95 POMT1 POMGNT2 FKTN FKRP
4 cardiac muscle contraction GO:0060048 9.95 DMD SGCD TCAP TTN
5 cardiac muscle hypertrophy GO:0003300 9.91 TTN TCAP CAV3
6 cardiac muscle tissue morphogenesis GO:0055008 9.89 TTN TCAP
7 cardiac myofibril assembly GO:0055003 9.88 TTN TCAP
8 T-tubule organization GO:0033292 9.88 DYSF CAV3
9 muscle cell cellular homeostasis GO:0046716 9.86 TRIM32 DMD CAV3 CAPN3
10 skeletal muscle thin filament assembly GO:0030240 9.84 TCAP TTN
11 regulation of skeletal muscle contraction GO:0014819 9.81 DMD CAV3
12 sarcomerogenesis GO:0048769 9.8 TTN TCAP
13 detection of muscle stretch GO:0035995 9.8 TTN TCAP CAV3
14 skeletal muscle myosin thick filament assembly GO:0030241 9.78 TTN TCAP
15 muscle cell development GO:0055001 9.76 SGCB FLNC DMD
16 protein O-linked mannosylation GO:0035269 9.76 FKRP FKTN POMGNT2 POMT1
17 response to denervation involved in regulation of muscle adaptation GO:0014894 9.74 SGCA DMD
18 nucleus localization GO:0051647 9.7 DMD CAV3
19 cardiac muscle cell development GO:0055013 9.65 TTN TCAP SGCD SGCB CAV3
20 muscle organ development GO:0007517 9.6 SGCG SGCD SGCB SGCA LMNA LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 dystroglycan binding GO:0002162 9.46 FKRP DMD
2 structural constituent of muscle GO:0008307 9.32 TTN TCAP MYOT DMD CAPN3
3 phosphotransferase activity, for other substituted phosphate groups GO:0016780 9.26 FKTN FKRP

Sources for Limb-Girdle Muscular Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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