MCID: LMB074
MIFTS: 25

Limb-Girdle Muscular Dystrophy Type 1b

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1b

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1b:

Name: Limb-Girdle Muscular Dystrophy Type 1b 20
Limb-Girdle Muscular Dystrophy, Type 1b 29 6
Muscular Dystrophy, Proximal, Type 1b 20 6
Lgmd1b 20 54

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1b

GARD : 20 Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types 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, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years. Limb-girdle muscular dystrophy type 1B is caused by mutations (changes) to the LMNA gene. The disease is inherited in an autosomal dominant manner. A diagnosis of LGMD1B is suspected in people who have signs and symptoms consistent with the disease, and the diagnosis can be confirmed with laboratory tests. While there are not treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease the complications.

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1b, also known as limb-girdle muscular dystrophy, type 1b, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1b is LMNA (Lamin A/C). Affiliated tissues include skeletal muscle.

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1b

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 Limb-Girdle Muscular Dystrophy Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 30.7 LMNA CAV3
2 muscular dystrophy 30.7 LMNA CAV3
3 autosomal dominant limb-girdle muscular dystrophy 30.0 LMNA CAV3
4 brugada syndrome 29.9 LMNA CAV3
5 neuromuscular disease 29.5 LMNA CAV3
6 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.5
7 myopathy 10.6
8 charcot-marie-tooth disease, axonal, type 2e 10.4
9 atrial standstill 1 10.3
10 exostoses, multiple, type ii 10.3
11 atrioventricular block 10.3
12 emery-dreifuss muscular dystrophy 10.3
13 dilated cardiomyopathy 10.3
14 lmna-related dilated cardiomyopathy 10.3
15 syncope 10.3
16 atrial standstill 10.3
17 premature aging 10.3
18 dysferlinopathy 9.9
19 dystrophinopathies 9.9
20 limb-girdle muscular dystrophy type 1a 9.9
21 qualitative or quantitative defects of dystrophin 9.9
22 qualitative or quantitative defects of dysferlin 9.9
23 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 LMNA CAV3
24 autosomal recessive limb-girdle muscular dystrophy 9.8 LMNA CAV3
25 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 LMNA CAV3
26 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 LMNA CAV3
27 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 LMNA CAV3
28 isolated elevated serum creatine phosphokinase levels 9.8 LMNA CAV3
29 intrinsic cardiomyopathy 9.8 LMNA CAV3
30 congenital generalized lipodystrophy 9.8 LMNA CAV3
31 muscle tissue disease 9.8 LMNA CAV3
32 catecholaminergic polymorphic ventricular tachycardia 9.8 LMNA CAV3
33 muscular disease 9.8 LMNA CAV3
34 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 LMNA CAV3
35 muscular dystrophy, congenital, lmna-related 9.8 LMNA CAV3
36 facioscapulohumeral muscular dystrophy 1 9.8 LMNA CAV3
37 heart conduction disease 9.8 LMNA CAV3
38 walker-warburg syndrome 9.7 LMNA CAV3
39 muscular atrophy 9.7 LMNA CAV3
40 cardiomyopathy, familial hypertrophic, 1 9.7 LMNA CAV3
41 long qt syndrome 9.6 LMNA CAV3
42 congenital myasthenic syndrome 9.6 LMNA CAV3
43 hypertrophic cardiomyopathy 9.5 LMNA CAV3

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy Type 1b:



Diseases related to Limb-Girdle Muscular Dystrophy Type 1b

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy Type 1b

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1b

Search Clinical Trials , NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 1b

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1b

Genetic tests related to Limb-Girdle Muscular Dystrophy Type 1b:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1b 29

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1b

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 1b:

40
Skeletal Muscle

Publications for Limb-Girdle Muscular Dystrophy Type 1b

Articles related to Limb-Girdle Muscular Dystrophy Type 1b:

(show top 50) (show all 82)
# Title Authors PMID Year
1
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 6 61
27717888 2016
2
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 61 6
20848652 2011
3
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 54 61 20
19446900 2009
4
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. 6 54
15668447 2005
5
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. 61 6
12032588 2002
6
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 61 6
11792809 2001
7
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 6 54
10814726 2000
8
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
9
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
10
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
11
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 6
22883396 2013
12
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
13
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 6
23427149 2013
14
Inflammatory changes in infantile-onset LMNA-associated myopathy. 6
21632249 2011
15
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 6
21173262 2011
16
Two children with "dropped head" syndrome due to lamin A/C mutations. 6
20886652 2010
17
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 6
20980393 2010
18
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 6
20498703 2010
19
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 6
19524666 2009
20
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 6
19084400 2009
21
Laminopathies in Russian families. 6
18564364 2008
22
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 6
18551513 2008
23
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 6
17377071 2007
24
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 6
17136397 2007
25
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 6
16772334 2006
26
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 6
15744034 2005
27
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 6
15372542 2004
28
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
29
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. 6
15148145 2004
30
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 6
14659775 2003
31
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 6
14684700 2003
32
LMNA mutations in atypical Werner's syndrome. 6
12927431 2003
33
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 6
12920062 2003
34
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 6
12673789 2003
35
A progeroid syndrome in mice is caused by defects in A-type lamins. 6
12748643 2003
36
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 6
12649505 2003
37
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 6
12628721 2003
38
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 6
12196663 2002
39
Structure of the globular tail of nuclear lamin. 6
11901143 2002
40
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 6
11503164 2001
41
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 6
10939567 2000
42
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 6
10739764 2000
43
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 6
10662742 2000
44
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 6
10080180 1999
45
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 6
9106535 1997
46
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 6
8619549 1996
47
In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. 6
1849984 1991
48
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 61 54
19882644 2010
49
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. 61 54
19070492 2009
50
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 61 54
15678000 2005

Variations for Limb-Girdle Muscular Dystrophy Type 1b

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1b:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic 14482 rs60934003 GRCh37: 1:156107004-156107004
GRCh38: 1:156137213-156137213
2 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) Microsatellite Pathogenic 66918 rs267607540 GRCh37: 1:156104300-156104302
GRCh38: 1:156134509-156134511
3 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic 66854 rs267607539 GRCh37: 1:156107028-156107028
GRCh38: 1:156137237-156137237
4 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic 208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
5 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic 216958 rs267607632 GRCh37: 1:156104767-156104767
GRCh38: 1:156134976-156134976
6 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
7 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 GRCh37: 1:156104620-156104620
GRCh38: 1:156134829-156134829
8 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
9 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic 14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
10 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) Deletion Pathogenic 14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
11 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) SNV Pathogenic 14481 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
12 LMNA NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) SNV Pathogenic 14508 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
13 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic 236201 rs878853220 GRCh37: 1:156100609-156100609
GRCh38: 1:156130818-156130818
14 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 GRCh37: 1:156104630-156104630
GRCh38: 1:156134839-156134839
15 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 GRCh37: 1:156084725-156084725
GRCh38: 1:156114934-156114934
16 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
17 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic 14511 rs58048078 GRCh37: 1:156104733-156104733
GRCh38: 1:156134942-156134942
18 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic 14514 rs56699480 GRCh37: 1:156106808-156106808
GRCh38: 1:156137017-156137017
19 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic 48074 rs60682848 GRCh37: 1:156104629-156104629
GRCh38: 1:156134838-156134838
20 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
21 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
22 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) SNV Pathogenic 14524 rs121912496 GRCh37: 1:156104701-156104701
GRCh38: 1:156134910-156134910
23 LMNA NM_170707.4(LMNA):c.409C>G (p.Leu137Val) SNV Likely pathogenic 858277 GRCh37: 1:156100460-156100460
GRCh38: 1:156130669-156130669
24 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Likely pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
25 LMNA NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) SNV Likely pathogenic 488542 rs1553265999 GRCh37: 1:156106716-156106716
GRCh38: 1:156136925-156136925
26 LMNA NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) SNV Likely pathogenic 66925 rs57207746 GRCh37: 1:156104651-156104651
GRCh38: 1:156134860-156134860
27 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV Likely pathogenic 66849 rs57629361 GRCh37: 1:156106998-156106998
GRCh38: 1:156137207-156137207
28 LMNA NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) SNV Uncertain significance 617763 rs267607578 GRCh37: 1:156106743-156106743
GRCh38: 1:156136952-156136952
29 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain significance 14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
30 LMNA NM_005572.3(LMNA):c.-226C>T SNV Uncertain significance 292823 rs886045354 GRCh37: 1:156084484-156084484
GRCh38: 1:156114693-156114693
31 LMNA NM_005572.3(LMNA):c.-210T>C SNV Uncertain significance 292825 rs886045356 GRCh37: 1:156084500-156084500
GRCh38: 1:156114709-156114709
32 LMNA NM_170707.4(LMNA):c.-138T>C SNV Uncertain significance 292828 rs886045359 GRCh37: 1:156084572-156084572
GRCh38: 1:156114781-156114781
33 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain significance 873801 GRCh37: 1:156084666-156084666
GRCh38: 1:156114875-156114875
34 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
35 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain significance 876083 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
36 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Uncertain significance 570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
37 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain significance 586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
38 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
39 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain significance 875747 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
40 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain significance 874034 GRCh37: 1:156104752-156104752
GRCh38: 1:156134961-156134961
41 LMNA NM_170707.4(LMNA):c.1698+57G>A SNV Uncertain significance 292840 rs557334569 GRCh37: 1:156107591-156107591
GRCh38: 1:156137800-156137800
42 LMNA NM_170707.4(LMNA):c.1698+83G>A SNV Uncertain significance 875382 GRCh37: 1:156107617-156107617
GRCh38: 1:156137826-156137826
43 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain significance 292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
44 LMNA NM_170707.4(LMNA):c.514-11C>T SNV Uncertain significance 292836 rs886045365 GRCh37: 1:156104183-156104183
GRCh38: 1:156134392-156134392
45 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain significance 222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
46 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
47 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain significance 200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
48 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain significance 242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
49 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Uncertain significance 200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
50 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914

Expression for Limb-Girdle Muscular Dystrophy Type 1b

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1b.

Pathways for Limb-Girdle Muscular Dystrophy Type 1b

GO Terms for Limb-Girdle Muscular Dystrophy Type 1b

Biological processes related to Limb-Girdle Muscular Dystrophy Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 LMNA CAV3

Sources for Limb-Girdle Muscular Dystrophy Type 1b

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
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35 IUPHAR
36 KEGG
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45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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