LGMDR2
MCID: MSC170
MIFTS: 67

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (LGMDR2)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 57 72
Lgmd2b 57 20 58 72 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 12 29 6 15
Muscular Dystrophy, Limb-Girdle, Type 2b 57 72 13 70
Beta-Sarcoglycanopathy 12 20 6 70
Muscular Dystrophy, Limb-Girdle, Type 3 57 20 72
Lgmd3 57 20 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 12 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 12 15
Muscular Dystrophy, Limb-Girdle, Type 2s 12 70
Limb-Girdle Muscular Dystrophy Type 2b 20 58
Limb-Girdle Muscular Dystrophy 2b 72 36
Lgmdr2 57 72
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 12
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 12
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 12
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 12
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 39
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 58
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 58
Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2s 6
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 58
Muscular Dystrophy, Limb-Girdle, Type 2b; Lgmd2b 57
Muscular Dystrophy, Limb-Girdle, Type 3; Lgmd3 57
Dystrophy, Muscular, Limb-Girdle, Type 2b 39
Muscular Dystrophy, Limb-Girdle, Type 2e 12
Muscular Dystrophy, Limb-Girdle, Type 2y 12
Limb-Girdle Muscular Dystrophy, Type 2b 6
Limb-Girdle Muscular Dystrophy, Type 2e 70
Lgmd Due to Dysferlin Deficiency 58
Dysferlin-Related Lgmd R2 58
Lgmd Type 2b 58
Lgmd2e 12
Lgmd2s 12
Lgmd2y 12

Characteristics:

Orphanet epidemiological data:

58
dysferlin-related limb-girdle muscular dystrophy r2
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
age at onset 15 to 25 years
many patients lose independent mobility after 25 years
onset in infancy was reported in 1 family
heterozygous mutation carriers may have late-onset of mild symptoms

Inheritance:
autosomal recessive


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 2:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 253601
OMIM Phenotypic Series 57 PS253600
KEGG 36 H01974
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1850889
Orphanet 58 ORPHA268
MedGen 41 C1850889
UMLS 70 C1850889 C1858593 C2930900 more

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

GARD : 20 Limb-girdle muscular dystrophy type 2B (LGMD2B) is one type of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. People who are Jewish, and specifically those of Libyan Jewish descent, are more likely to have LGMD2B. LGMD2B is caused by variations (also known mutations ) in the DYSF gene. The disease is inherited in an autosomal recessive manner. Diagnosis of LGMD2B is suspected in people who have signs and symptoms of the disease, and the diagnosis can be confirmed by a muscle biopsy and genetic testing. While there are no treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease complications.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2, also known as lgmd2b, is related to muscular dystrophy, limb-girdle, autosomal recessive 4 and autosomal recessive limb-girdle muscular dystrophy type 2b, and has symptoms including ataxia, tremor and waddling gait. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and eye, and related phenotypes are elevated serum creatine kinase and proximal muscle weakness in lower limbs

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

KEGG : 36 Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized by weakness in the proximal muscles at onset, involving predominantly the lower limbs. At late stages of the disease, loss of muscle bulk in the pelvic girdle and calf may appear. Onset is typically in the late teens or early adulthood.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 2: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.

More information from OMIM: 253601 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

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 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
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 4 32.7 TTN TRIM32 TCAP SGCB SGCA FKRP
2 autosomal recessive limb-girdle muscular dystrophy type 2b 31.6 TCAP SGCG SGCD SGCB SGCA MYOT
3 myositis 31.0 TTN DYSF DMD CAPN3
4 dysferlinopathy 31.0 SGCA DYSF CAPN3
5 muscular dystrophy, limb-girdle, autosomal recessive 1 30.6 TRAPPC11 SGCB CAPN3
6 limb-girdle muscular dystrophy type 1c 30.4 FKRP DYSF CAV3
7 progressive muscular dystrophy 30.4 SGCA DMD
8 muscular atrophy 30.3 TTN LMNA CAV3 CAPN3
9 atrial standstill 1 30.1 TTN MYOT LMNA FKRP DMD
10 limb-girdle muscular dystrophy 29.7 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
11 miyoshi muscular dystrophy 29.6 TTN TCAP SGCG SGCD SGCB SGCA
12 muscular dystrophy, limb-girdle, autosomal recessive 6 29.6 TTN TRIM32 TCAP SGCG SGCD SGCB
13 neuromuscular disease 29.5 TTN TCAP SGCG SGCD SGCB SGCA
14 muscular dystrophy-dystroglycanopathy , type c, 5 29.5 TTN TRIM32 TCAP SGCG SGCD SGCB
15 autosomal recessive limb-girdle muscular dystrophy type 2f 29.4 TCAP SGCG SGCD SGCB SGCA MYOT
16 myopathy 29.2 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
17 dilated cardiomyopathy 29.1 TTN TCAP SGCG SGCD SGCB SGCA
18 muscular dystrophy 28.8 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
19 autosomal recessive limb-girdle muscular dystrophy 28.4 TTN TRIM32 TRAPPC11 TCAP SGCG SGCD
20 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.9
21 muscular dystrophy, limb-girdle, autosomal recessive 18 11.7
22 localized lipodystrophy 10.4 DYSF DMD
23 paresthesia 10.4 FKRP CAPN3
24 polymyositis 10.4
25 limb-girdle muscular dystrophy type 1b 10.4 LMNA CAV3
26 congenital muscular dystrophy without intellectual disability 10.4 POMT1 FKRP
27 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN DMD
28 congenital muscular dystrophy due to dystroglycanopathy 10.4 GMPPB FKRP
29 foot drop 10.4 TTN MYOT DYSF
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TTN LMNA
31 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TTN LMNA
32 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 FKRP DMD CAPN3
33 miyoshi muscular dystrophy 3 10.3 DYSF CAPN3 ANO5
34 congenital muscular dystrophy-dystroglycanopathy type a1 10.3 POMT1 FKRP
35 miyoshi muscular dystrophy 1 10.3
36 autosomal dominant distal myopathy 10.3 TTN MYOT DMD
37 mcleod syndrome 10.3 SGCA DMD
38 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TTN LMNA
39 muscular dystrophy, congenital, 1b 10.3 GMPPB FKRP
40 myopathy, myofibrillar, 4 10.3 TTN TCAP MYOT
41 reducing body myopathy 10.3 TTN DMD
42 muscular dystrophy, limb-girdle, autosomal dominant 1 10.3 MYOT DYSF CAV3 CAPN3
43 cardiomyopathy, dilated, 1a 10.3 TTN MYOT LMNA
44 cobblestone lissencephaly 10.3 POMT1 FKRP DMD
45 congenital muscular dystrophy with intellectual disability 10.3 POMT1 GMPPB FKRP
46 congenital muscular dystrophy with cerebellar involvement 10.3 POMT1 GMPPB FKRP
47 muscular dystrophy, limb-girdle, type 1h 10.3 TRAPPC11 MYOT LIMS2 CAV3
48 muscular dystrophy-dystroglycanopathy , type b, 6 10.3 POMT1 FKRP
49 myopathy, spheroid body 10.3 TCAP MYOT
50 cardiomyopathy, dilated, 1d 10.3 POMT1 FKRP

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
3 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
4 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
5 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
6 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
7 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
8 proximal muscle weakness in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008997
9 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
10 right bundle branch block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011712
11 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
12 reduced ejection fraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0012664
13 muscular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0100748
14 abnormal ekg 58 31 occasional (7.5%) Occasional (29-5%) HP:0003115
15 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
16 right ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001667
17 neck flexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003722
18 difficulty running 58 31 occasional (7.5%) Occasional (29-5%) HP:0009046
19 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
20 chorea 58 31 very rare (1%) Very rare (<4-1%) HP:0002072
21 spinal rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0003306
22 limited elbow movement 58 31 very rare (1%) Very rare (<4-1%) HP:0002996
23 inability to walk 58 31 very rare (1%) Very rare (<4-1%) HP:0002540
24 pollakisuria 58 31 very rare (1%) Very rare (<4-1%) HP:0100515
25 distal upper limb muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0008959
26 limited hip movement 58 31 very rare (1%) Very rare (<4-1%) HP:0008800
27 tip-toe gait 58 31 very rare (1%) Very rare (<4-1%) HP:0030051
28 limited knee flexion/extension 58 31 very rare (1%) Very rare (<4-1%) HP:0005085
29 brachial plexus neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0045054
30 fatigue 31 HP:0012378
31 emg: myopathic abnormalities 31 HP:0003458
32 muscular dystrophy 31 HP:0003560
33 proximal muscle weakness 31 HP:0003701
34 increased variability in muscle fiber diameter 31 HP:0003557
35 muscle fiber splitting 31 HP:0003555
36 increased connective tissue 31 HP:0009025

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
proximal muscle weakness
difficulty climbing stairs
difficulty running
myopathic changes seen on emg
increased variation in fiber size
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

253601 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:


ataxia; tremor; waddling gait; myalgia; athetosis; muscle cramp

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.72 CAPN3
2 Decreased viability GR00055-A-2 9.72 CAPN3
3 Decreased viability GR00055-A-3 9.72 CAPN3
4 Decreased viability GR00221-A-2 9.72 TTN
5 Decreased viability GR00221-A-4 9.72 DYSF TTN
6 Decreased viability GR00240-S-1 9.72 LMNA TCAP
7 Decreased viability GR00249-S 9.72 LMNA SGCA TCAP
8 Decreased viability GR00301-A 9.72 DYSF
9 Decreased viability GR00342-S-1 9.72 TTN
10 Decreased viability GR00342-S-3 9.72 TTN
11 Decreased viability GR00381-A-1 9.72 FKRP SGCA TRIM32
12 Decreased viability GR00386-A-1 9.72 LIMS2 LMNA
13 Decreased viability GR00402-S-2 9.72 DMD GMPPB SGCA SGCB TCAP TRIM32

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ANO5 CAPN3 CAV3 DMD FKRP LIMS2
2 homeostasis/metabolism MP:0005376 10 ANO5 CAPN3 CAV3 DMD DYSF FKRP
3 muscle MP:0005369 9.86 ANO5 CAPN3 CAV3 DMD DYSF FKRP
4 normal MP:0002873 9.23 CAPN3 DMD FKRP LIMS2 LMNA MYOT

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Drugs for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 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 (╬▓-Sarcoglycan Deficiency). Active, not recruiting NCT03652259 Phase 1, Phase 2
3 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
4 Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E Recruiting NCT04509609
5 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

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 29 SGCB

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

40
Skeletal Muscle, Monocytes, Eye, Brain, Heart

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61 54 57 6
17994539 2008
2
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. 57 6 54 61
11134403 2000
3
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). 61 57 6 54
10196377 1999
4
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 61 6 57
21522182 2011
5
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. 57 6 61
20535123 2010
6
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. 6 54 57
16087766 2005
7
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. 61 6 57
9731527 1998
8
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. 61 57 6
9009996 1996
9
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. 61 57 6
8808603 1996
10
A new phenotype of dysferlinopathy with congenital onset. 6 57
19084402 2009
11
Dysferlin-deficient muscular dystrophy features amyloidosis. 6 57
18306167 2008
12
Symptomatic dysferlin gene mutation carriers: characterization of two cases. 6 57
17287450 2007
13
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. 57 6
10766988 2000
14
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 54 61 6
19154541 2009
15
Analysis of the DYSF mutational spectrum in a large cohort of patients. 6 61 54
18853459 2009
16
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. 61 6 54
18832576 2008
17
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. 61 6 54
18276788 2008
18
Dysfunction of dysferlin-deficient hearts. 6 61 54
17828519 2007
19
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). 6 54 61
17331981 2007
20
Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family. 61 6 54
18294055 2007
21
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 61 54 6
16010686 2005
22
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. 54 61 6
15469449 2004
23
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. 61 57 54
10069710 1999
24
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. 57 54 61
7665169 1995
25
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 6 61
28403181 2017
26
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 6 61
26060040 2016
27
Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain. 61 6
26806107 2016
28
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. 6 61
23519732 2013
29
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. 61 6
23243261 2013
30
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. 61 6
23406536 2013
31
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. 61 6
23185377 2012
32
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. 6 61
22057634 2011
33
Novel DYSF mutations in Thai patients with distal myopathy. 6 61
19493611 2009
34
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. 6 61
15835269 2005
35
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. 54 6
14678801 2003
36
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. 6 61
11468312 2001
37
Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. 57 61
9192858 1997
38
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. 57 61
8617508 1996
39
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. 6
30564623 2018
40
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
41
Exome Pool-Seq in neurodevelopmental disorders. 6
29158550 2017
42
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 6
28687063 2017
43
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
44
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 6
28104817 2017
45
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. 6
27707803 2017
46
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. 6
28883879 2017
47
Dysferlin mutations and mitochondrial dysfunction. 6
27666772 2016
48
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 6
27647186 2016
49
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair. 6
27641898 2016
50
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 6
27602406 2016

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

6 (show top 50) (show all 974)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAPPC11 NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) SNV Pathogenic 60510 rs397509417 GRCh37: 4:184622936-184622936
GRCh38: 4:183701783-183701783
2 TRAPPC11 NM_021942.6(TRAPPC11):c.661-1G>T SNV Pathogenic 268054 rs886041052 GRCh37: 4:184596316-184596316
GRCh38: 4:183675163-183675163
3 TRAPPC11 NM_021942.6(TRAPPC11):c.1893+3A>G SNV Pathogenic 268055 rs886041053 GRCh37: 4:184607904-184607904
GRCh38: 4:183686751-183686751
4 TRAPPC11 NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) SNV Pathogenic 375391 rs150331292 GRCh37: 4:184585162-184585162
GRCh38: 4:183664009-183664009
5 TRAPPC11 NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs) Duplication Pathogenic 450724 rs1554009901 GRCh37: 4:184614228-184614229
GRCh38: 4:183693075-183693076
6 TRAPPC11 NC_000004.12:g.(?_183663858)_(183712654_?)del Deletion Pathogenic 832412 GRCh37: 4:184585011-184633807
GRCh38:
7 TRAPPC11 NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) Microsatellite Pathogenic 1033986 GRCh37: 4:184589223-184589226
GRCh38: 4:183668070-183668073
8 TRAPPC11 NM_021942.6(TRAPPC11):c.1568-1G>T SNV Pathogenic 1033577 GRCh37: 4:184606236-184606236
GRCh38: 4:183685083-183685083
9 TRAPPC11 NM_021942.6(TRAPPC11):c.2625del (p.His875fs) Deletion Pathogenic 1033578 GRCh37: 4:184615873-184615873
GRCh38: 4:183694720-183694720
10 DYSF NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) Indel Pathogenic 6669 rs786200896 GRCh37: 2:71887767-71887771
GRCh38: 2:71660637-71660641
11 DYSF NM_001130987.2(DYSF):c.5156_5174+4dup Duplication Pathogenic 6670 rs786205082 GRCh37: 2:71891547-71891548
GRCh38: 2:71664417-71664418
12 DYSF NM_001130987.2(DYSF):c.5174+5G>A SNV Pathogenic 6672 rs745891180 GRCh37: 2:71891573-71891573
GRCh38: 2:71664443-71664443
13 DYSF NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) Indel Pathogenic 6673 rs121908957 GRCh37: 2:71709064-71709065
GRCh38: 2:71481934-71481935
14 DYSF NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) SNV Pathogenic 6677 rs121908960 GRCh37: 2:71780261-71780261
GRCh38: 2:71553131-71553131
15 DYSF NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) SNV Pathogenic 6678 rs121908961 GRCh37: 2:71894506-71894506
GRCh38: 2:71667376-71667376
16 DYSF NM_001130987.2(DYSF):c.3497-33A>G SNV Pathogenic 6680 rs786205083 GRCh37: 2:71817308-71817308
GRCh38: 2:71590178-71590178
17 DYSF NM_001130987.2(DYSF):c.1381-2A>G SNV Pathogenic 6683 rs786200897 GRCh37: 2:71762149-71762149
GRCh38: 2:71535019-71535019
18 DYSF NM_001130987.2(DYSF):c.951+1del Deletion Pathogenic 6684 rs786200898 GRCh37: 2:71743372-71743372
GRCh38: 2:71516242-71516242
19 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) Deletion Pathogenic 6685 rs727503909 GRCh37: 2:71795435-71795435
GRCh38: 2:71568305-71568305
20 SGCB SGCB, 8-BP DUP, NT383 Duplication Pathogenic 8714 GRCh37:
GRCh38:
21 SGCB NM_000232.4(SGCB):c.466_467del (p.Glu156fs) Deletion Pathogenic 8715 rs1578125670 GRCh37: 4:52895050-52895051
GRCh38: 4:52028884-52028885
22 SGCB NM_000232.4(SGCB):c.272G>C (p.Arg91Pro) SNV Pathogenic 8716 rs104893869 GRCh37: 4:52896001-52896001
GRCh38: 4:52029835-52029835
23 SGCB NM_000232.4(SGCB):c.323T>G (p.Leu108Arg) SNV Pathogenic 8717 rs104893870 GRCh37: 4:52895950-52895950
GRCh38: 4:52029784-52029784
24 DYSF NM_001130987.2(DYSF):c.1149+1G>A SNV Pathogenic 94262 rs398123763 GRCh37: 2:71748035-71748035
GRCh38: 2:71520905-71520905
25 DYSF NM_001130987.2(DYSF):c.1380+2T>C SNV Pathogenic 94266 rs398123765 GRCh37: 2:71755533-71755533
GRCh38: 2:71528403-71528403
26 DYSF NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) Duplication Pathogenic 94271 rs398123767 GRCh37: 2:71762435-71762436
GRCh38: 2:71535305-71535306
27 SGCB NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) SNV Pathogenic 8719 rs104893869 GRCh37: 4:52896001-52896001
GRCh38: 4:52029835-52029835
28 SGCB SGCB, 4-BP DEL, 243+3GAGT Deletion Pathogenic 8720 GRCh37:
GRCh38:
29 DYSF NM_001130987.2(DYSF):c.1577-1692G>A SNV Pathogenic 94274 rs398123770 GRCh37: 2:71776479-71776479
GRCh38: 2:71549349-71549349
30 DYSF NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) Duplication Pathogenic 94351 rs398123799 GRCh37: 2:71908162-71908163
GRCh38: 2:71681032-71681033
31 DYSF NM_001130987.2(DYSF):c.759+1G>C SNV Pathogenic 94355 rs398123800 GRCh37: 2:71741052-71741052
GRCh38: 2:71513922-71513922
32 DYSF NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) SNV Pathogenic 197217 rs794727636 GRCh37: 2:71730372-71730372
GRCh38: 2:71503242-71503242
33 DYSF NM_001130987.2(DYSF):c.1263_1276+1dup Duplication Pathogenic 217221 rs863225019 GRCh37: 2:71753462-71753463
GRCh38: 2:71526332-71526333
34 DYSF NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) SNV Pathogenic 284254 rs202218890 GRCh37: 2:71797014-71797014
GRCh38: 2:71569884-71569884
35 DYSF NM_001130987.2(DYSF):c.3564_3565CT[1] (p.Ser1189fs) Microsatellite Pathogenic 284251 rs886042827 GRCh37: 2:71817408-71817409
GRCh38: 2:71590278-71590279
36 DYSF NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) SNV Pathogenic 430739 rs1131692158 GRCh37: 2:71896337-71896337
GRCh38: 2:71669207-71669207
37 SGCB NM_000232.4(SGCB):c.656_657del (p.Lys219fs) Deletion Pathogenic 466603 rs775458201 GRCh37: 4:52894230-52894231
GRCh38: 4:52028064-52028065
38 SGCB NC_000004.12:g.(?_52038207)_(52038279_?)del Deletion Pathogenic 466600 GRCh37: 4:52904373-52904445
GRCh38: 4:52038207-52038279
39 SGCB NM_000232.4(SGCB):c.82_86del (p.Glu28fs) Deletion Pathogenic 466608 rs1553940687 GRCh37: 4:52899754-52899758
GRCh38: 4:52033588-52033592
40 SGCB NM_000232.4(SGCB):c.253_254del (p.Val85fs) Deletion Pathogenic 466602 rs1553940274 GRCh37: 4:52896019-52896020
GRCh38: 4:52029853-52029854
41 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) SNV Pathogenic 474342 rs140403642 GRCh37: 4:184603963-184603963
GRCh38: 4:183682810-183682810
42 DYSF NM_001130987.2(DYSF):c.922del (p.Glu308fs) Deletion Pathogenic 499095 rs1553522133 GRCh37: 2:71743340-71743340
GRCh38: 2:71516210-71516210
43 SGCB NM_000232.4(SGCB):c.28G>T (p.Glu10Ter) SNV Pathogenic 534947 rs1448040082 GRCh37: 4:52904398-52904398
GRCh38: 4:52038232-52038232
44 DYSF NM_001130987.2(DYSF):c.730del (p.Leu244fs) Deletion Pathogenic 523646 rs1553521119 GRCh37: 2:71741022-71741022
GRCh38: 2:71513892-71513892
45 DYSF NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) SNV Pathogenic 551236 rs750028300 GRCh37: 2:71797407-71797407
GRCh38: 2:71570277-71570277
46 DYSF NM_001130987.2(DYSF):c.1350del (p.Phe451fs) Deletion Pathogenic 551669 rs766936914 GRCh37: 2:71755498-71755498
GRCh38: 2:71528368-71528368
47 DYSF NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) SNV Pathogenic 551845 rs199543257 GRCh37: 2:71791326-71791326
GRCh38: 2:71564196-71564196
48 DYSF NM_001130987.2(DYSF):c.1577-2A>G SNV Pathogenic 552023 rs1553542142 GRCh37: 2:71778169-71778169
GRCh38: 2:71551039-71551039
49 DYSF NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) SNV Pathogenic 419655 rs1064794020 GRCh37: 2:71906303-71906303
GRCh38: 2:71679173-71679173
50 DYSF NM_001130987.2(DYSF):c.5317+1G>A SNV Pathogenic 538631 rs773386253 GRCh37: 2:71892435-71892435
GRCh38: 2:71665305-71665305

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2:

72 (show all 24)
# Symbol AA change Variation ID SNP ID
1 DYSF p.Pro791Arg VAR_012308 rs121908956
2 DYSF p.Ile1298Val VAR_012309 rs121908954
3 DYSF p.Arg2042Cys VAR_012311 rs121908955
4 DYSF p.Arg555Trp VAR_024859 rs377735262
5 DYSF p.Arg959Trp VAR_024860 rs202218890
6 DYSF p.Arg1038Gln VAR_024862 rs150877497
7 DYSF p.Glu1335Lys VAR_024868 rs758993965
8 DYSF p.Trp52Arg VAR_057834 rs155350886
9 DYSF p.Val67Asp VAR_057835 rs121908957
10 DYSF p.Gly155Arg VAR_057837 rs200970855
11 DYSF p.Gly234Glu VAR_057838 rs141497053
12 DYSF p.Ile284Thr VAR_057839 rs155352216
13 DYSF p.Gly299Arg VAR_057840 rs121908963
14 DYSF p.Gly618Arg VAR_057851 rs201049092
15 DYSF p.Gly621Arg VAR_057852 rs886043900
16 DYSF p.Asp625Tyr VAR_057853 rs121908960
17 DYSF p.Pro731Arg VAR_057854
18 DYSF p.Leu1228Pro VAR_057860
19 DYSF p.Leu1341Pro VAR_057862 rs757917335
20 DYSF p.Tyr1505Cys VAR_057864 rs757820496
21 DYSF p.Lys1526Thr VAR_057865 rs76086153
22 DYSF p.Gly1543Asp VAR_057866
23 DYSF p.Glu1734Gly VAR_057872 rs121908961
24 DYSF p.Pro1970Ser VAR_057880 rs105752114

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin heavy chain 3 Skeletal Muscle + 4.55 0.000
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 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
12.4 SGCG SGCD SGCB SGCA DMD
3 11.62 SGCG SGCD SGCB SGCA LMNA DMD
4
Show member pathways
11.44 TTN SGCG SGCD SGCB SGCA LMNA
5 11.19 TTN TCAP DMD
6 10.73 POMT1 FKRP

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 TTN TRIM32 TCAP SGCG SGCD SGCB
2 plasma membrane GO:0005886 10.22 TTN SGCG SGCD SGCB SGCA MYOT
3 Z disc GO:0030018 9.73 TTN TCAP MYOT DMD CAV3 CAPN3
4 T-tubule GO:0030315 9.54 DYSF CAV3 CAPN3
5 I band GO:0031674 9.46 TTN TCAP
6 sarcoglycan complex GO:0016012 9.46 SGCG SGCD SGCB SGCA
7 dystrophin-associated glycoprotein complex GO:0016010 9.35 SGCD SGCB SGCA DMD CAV3
8 dystroglycan complex GO:0016011 9.32 SGCB SGCA
9 sarcolemma GO:0042383 9.28 SGCG SGCD SGCB SGCA MYOT FKRP

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.65 TTN TCAP DMD
2 cardiac muscle tissue development GO:0048738 9.63 SGCG SGCD
3 positive regulation of proteolysis GO:0045862 9.62 TRIM32 CAPN3
4 protein O-linked mannosylation GO:0035269 9.62 POMT1 FKRP
5 response to muscle stretch GO:0035994 9.61 TCAP DMD
6 heart contraction GO:0060047 9.61 SGCG SGCD
7 muscle filament sliding GO:0030049 9.61 TTN TCAP DMD
8 muscle fiber development GO:0048747 9.6 SGCB DMD
9 plasma membrane repair GO:0001778 9.59 DYSF CAV3
10 cardiac muscle tissue morphogenesis GO:0055008 9.58 TTN TCAP
11 cardiac myofibril assembly GO:0055003 9.58 TTN TCAP
12 sarcomere organization GO:0045214 9.58 TTN TCAP CAPN3
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.57 SGCA DMD
14 cardiac muscle hypertrophy GO:0003300 9.56 TTN TCAP
15 cardiac muscle cell development GO:0055013 9.55 SGCB CAV3
16 muscle contraction GO:0006936 9.55 TTN SGCA MYOT DYSF CAV3
17 T-tubule organization GO:0033292 9.54 DYSF CAV3
18 cardiac muscle fiber development GO:0048739 9.52 TTN TCAP
19 nucleus localization GO:0051647 9.51 DMD CAV3
20 skeletal muscle thin filament assembly GO:0030240 9.49 TTN TCAP
21 regulation of skeletal muscle contraction GO:0014819 9.46 DMD CAV3
22 detection of muscle stretch GO:0035995 9.43 TTN TCAP CAV3
23 sarcomerogenesis GO:0048769 9.37 TTN TCAP
24 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
25 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 DMD CAV3 CAPN3
26 muscle organ development GO:0007517 9.23 SGCG SGCD SGCB SGCA LMNA DMD

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 9.26 DMD CAV3
2 titin binding GO:0031432 9.16 TCAP CAPN3
3 structural constituent of muscle GO:0008307 9.02 TTN TCAP MYOT DMD CAPN3
4 dystroglycan binding GO:0002162 8.96 FKRP DMD

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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