MCID: LMB074
MIFTS: 25

Limb-Girdle Muscular Dystrophy Type 1b

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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 19
Lgmd1b 19 53
Limb-Girdle Muscular Dystrophy, Type 1b 5
Muscular Dystrophy, Proximal, Type 1b 19

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1b

GARD: 19 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. Limb-girdle muscular dystrophy type 1B is caused by genetic changes (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.

MalaCards based summary: Limb-Girdle Muscular Dystrophy Type 1b, also known as lgmd1b, 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 and heart.

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 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 Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# 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 29.9 LMNA CAV3
6 dilated cardiomyopathy 29.6 LMNA CAV3
7 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.5
8 myopathy 10.6
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
10 exostoses, multiple, type i 10.3
11 exostoses, multiple, type ii 10.3
12 charcot-marie-tooth disease, axonal, type 2e 10.3
13 atrioventricular block 10.3
14 emery-dreifuss muscular dystrophy 10.3
15 syncope 10.3
16 atrial standstill 10.3
17 premature aging 10.3
18 cardiac conduction defect 9.9
19 down syndrome 9.9
20 muscular dystrophy, becker type 9.9
21 progressive familial heart block, type ib 9.9
22 myopathy, myofibrillar, 3 9.9
23 dysferlinopathy 9.9
24 limb-girdle muscular dystrophy type 1a 9.9
25 qualitative or quantitative defects of dystrophin 9.9
26 qualitative or quantitative defects of dysferlin 9.9
27 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 LMNA CAV3
28 autosomal recessive limb-girdle muscular dystrophy 9.8 LMNA CAV3
29 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 LMNA CAV3
30 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 LMNA CAV3
31 isolated elevated serum creatine phosphokinase levels 9.8 LMNA CAV3
32 bethlem myopathy 1 9.8 LMNA CAV3
33 catecholaminergic polymorphic ventricular tachycardia 9.8 LMNA CAV3
34 congenital generalized lipodystrophy 9.8 LMNA CAV3
35 intrinsic cardiomyopathy 9.8 LMNA CAV3
36 myofibrillar myopathy 9.8 LMNA CAV3
37 muscle tissue disease 9.8 LMNA CAV3
38 muscular disease 9.8 LMNA CAV3
39 long qt syndrome 1 9.8 LMNA CAV3
40 long qt syndrome 9.8 LMNA CAV3
41 walker-warburg syndrome 9.8 LMNA CAV3
42 muscular dystrophy, congenital, lmna-related 9.7 LMNA CAV3
43 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 LMNA CAV3
44 left ventricular noncompaction 9.7 LMNA CAV3
45 cardiomyopathy, familial hypertrophic, 1 9.7 LMNA CAV3
46 muscular atrophy 9.6 LMNA CAV3
47 hypertrophic cardiomyopathy 9.6 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

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1b

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

MalaCards : Skeletal Muscle, Heart

Publications for Limb-Girdle Muscular Dystrophy Type 1b

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

(show top 50) (show all 101)
# Title Authors PMID Year
1
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. 53 62 5
15668447 2005
2
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 53 62 5
10814726 2000
3
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 62 5
27717888 2016
4
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 62 5
20848652 2011
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. 62 5
12032588 2002
6
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 62 5
11792809 2001
7
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 62 5
9106535 1997
8
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
9
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 5
30055862 2018
10
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
11
Congenital fiber type disproportion myopathy caused by LMNA mutations. 5
24642510 2014
12
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 5
22883396 2013
13
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 5
23349452 2013
14
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 5
23427149 2013
15
Inflammatory changes in infantile-onset LMNA-associated myopathy. 5
21632249 2011
16
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 5
21173262 2011
17
Two children with "dropped head" syndrome due to lamin A/C mutations. 5
20886652 2010
18
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 5
20980393 2010
19
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 5
20498703 2010
20
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 5
19524666 2009
21
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 5
19084400 2009
22
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 5
18551513 2008
23
Laminopathies in Russian families. 5
18564364 2008
24
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 5
17377071 2007
25
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 5
17136397 2007
26
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 5
16772334 2006
27
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 5
15744034 2005
28
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 5
15372542 2004
29
Emery-Dreifuss Muscular Dystrophy 5
20301609 2004
30
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. 5
15148145 2004
31
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 5
14659775 2003
32
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 5
14684700 2003
33
LMNA mutations in atypical Werner's syndrome. 5
12927431 2003
34
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 5
12920062 2003
35
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 5
12673789 2003
36
A progeroid syndrome in mice is caused by defects in A-type lamins. 5
12748643 2003
37
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 5
12649505 2003
38
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 5
12628721 2003
39
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 5
12196663 2002
40
Structure of the globular tail of nuclear lamin. 5
11901143 2002
41
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 5
11503164 2001
42
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 5
10939567 2000
43
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 5
10739764 2000
44
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 5
10662742 2000
45
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 5
10080180 1999
46
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 5
8619549 1996
47
In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. 5
1849984 1991
48
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 53 62
19882644 2010
49
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 53 62
20130076 2010
50
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 53 62
19446900 2009

Variations for Limb-Girdle Muscular Dystrophy Type 1b

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

5 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) SNV Pathogenic
14481 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
2 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic
14482 rs60934003 GRCh37: 1:156107004-156107004
GRCh38: 1:156137213-156137213
3 LMNA NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) MICROSAT Pathogenic
66918 rs267607540 GRCh37: 1:156104300-156104302
GRCh38: 1:156134509-156134511
4 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic
66854 rs267607539 GRCh37: 1:156107028-156107028
GRCh38: 1:156137237-156137237
5 LMNA NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) SNV Pathogenic
14508 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
6 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic
14511 rs58048078 GRCh37: 1:156104733-156104733
GRCh38: 1:156134942-156134942
7 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic
14514 rs56699480 GRCh37: 1:156106808-156106808
GRCh38: 1:156137017-156137017
8 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic
14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
9 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic
208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
10 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic
48074 rs60682848 GRCh37: 1:156104629-156104629
GRCh38: 1:156134838-156134838
11 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic
216958 rs267607632 GRCh37: 1:156104767-156104767
GRCh38: 1:156134976-156134976
12 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic
236201 rs878853220 GRCh37: 1:156100609-156100609
GRCh38: 1:156130818-156130818
13 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic
14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
14 LMNA NM_170707.4(LMNA):c.960del (p.Arg321fs) DEL Pathogenic
14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
15 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic
14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
16 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic
Not Provided
14477 rs61046466 GRCh37: 1:156084725-156084725
GRCh38: 1:156114934-156114934
17 LMNA NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) MICROSAT Pathogenic
435778 rs1553265761 GRCh37: 1:156105902-156105904
GRCh38: 1:156136111-156136113
18 LMNA NM_170707.4(LMNA):c.1381-2A>C SNV Pathogenic
1695415 GRCh37: 1:156106710-156106710
GRCh38: 1:156136919-156136919
19 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic
36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
20 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) SNV Pathogenic
14524 rs121912496 GRCh37: 1:156104701-156104701
GRCh38: 1:156134910-156134910
21 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic/Likely Pathogenic
14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
22 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic/Likely Pathogenic
66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
23 LMNA NM_170707.4(LMNA):c.409C>G (p.Leu137Val) SNV Likely Pathogenic
858277 rs747998566 GRCh37: 1:156100460-156100460
GRCh38: 1:156130669-156130669
24 LMNA NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) SNV Likely Pathogenic
520647 rs1553262007 GRCh37: 1:156085014-156085014
GRCh38: 1:156115223-156115223
25 LMNA NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) SNV Likely Pathogenic
285468 rs886043109 GRCh37: 1:156084792-156084792
GRCh38: 1:156115001-156115001
26 LMNA NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) SNV Likely Pathogenic
66849 rs57629361 GRCh37: 1:156106998-156106998
GRCh38: 1:156137207-156137207
27 LMNA NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) SNV Likely Pathogenic
66925 rs57207746 GRCh37: 1:156104651-156104651
GRCh38: 1:156134860-156134860
28 LMNA NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs) DUP Likely Pathogenic
1709023 GRCh37: 1:156105821-156105822
GRCh38: 1:156136030-156136031
29 LMNA NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) SNV Likely Pathogenic
1341358 GRCh37: 1:156084877-156084877
GRCh38: 1:156115086-156115086
30 LMNA NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) SNV Likely Pathogenic
488542 rs1553265999 GRCh37: 1:156106716-156106716
GRCh38: 1:156136925-156136925
31 LMNA NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly) SNV Uncertain Significance
999846 rs1449688220 GRCh37: 1:156105795-156105795
GRCh38: 1:156136004-156136004
32 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain Significance
14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
33 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) SNV Uncertain Significance
48063 rs397517901 GRCh37: 1:156085059-156085059
GRCh38: 1:156115268-156115268
34 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain Significance
66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
35 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Uncertain Significance
570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
36 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV Uncertain Significance
292834 rs886045363 GRCh37: 1:156085003-156085003
GRCh38: 1:156115212-156115212
37 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain Significance
656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
38 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain Significance
586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
39 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain Significance
242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
40 LMNA NM_170707.4(LMNA):c.1698+57G>A SNV Uncertain Significance
292840 rs557334569 GRCh37: 1:156107591-156107591
GRCh38: 1:156137800-156137800
41 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Uncertain Significance
200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
42 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain Significance
48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
43 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain Significance
Uncertain Significance
245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
44 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Uncertain Significance
163878 rs142191737 GRCh37: 1:156107470-156107470
GRCh38: 1:156137679-156137679
45 LMNA NM_170707.4(LMNA):c.1698+83G>A SNV Uncertain Significance
875382 rs555844506 GRCh37: 1:156107617-156107617
GRCh38: 1:156137826-156137826
46 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain Significance
875747 rs1649747809 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
47 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain Significance
874034 rs1651418246 GRCh37: 1:156104752-156104752
GRCh38: 1:156134961-156134961
48 LMNA NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) SNV Uncertain Significance
224680 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
49 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain Significance
876083 rs505058 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
50 LMNA NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) SNV Uncertain Significance
617763 rs267607578 GRCh37: 1:156106743-156106743
GRCh38: 1:156136952-156136952

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 8.8 LMNA CAV3

Sources for Limb-Girdle Muscular Dystrophy Type 1b

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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