Limb-Girdle Muscular Dystrophy Type 1b disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Cardiovascular diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

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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.

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Related Diseases for Limb-Girdle Muscular Dystrophy Type 1b

Diseases in the Limb-Girdle Muscular Dystrophy family:

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:

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

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

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

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Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1b

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Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1b

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

MalaCards : Skeletal Muscle, Heart

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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	van Engelen BG...Lammens M	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	Muchir A...Schwartz K	10814726	2000
3	New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. ⁶² ⁵	Rogozhina Y...Zaklyazminskaya E	27717888	2016
4	Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. ⁶² ⁵	Scharner J...Zammit PS	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	Ki CS...Kim JW	12032588	2002
6	Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. ⁶² ⁵	Ostlund C...Worman HJ	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	van der Kooi AJ...Bolhuis PA	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
9	229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ⁵	Straub V...LGMD workshop study group	30055862	2018
10	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁵	Punetha J...Hoffman EP	27854218	2016
11	Congenital fiber type disproportion myopathy caused by LMNA mutations. ⁵	Kajino S...Hayashi YK	24642510	2014
12	Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. ⁵	Coutance G...Chapon F	22883396	2013
13	Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. ⁵	van Spaendonck-Zwarts KY...van Tintelen JP	23349452	2013
14	Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. ⁵	Zwerger M...Lammerding J	23427149	2013
15	Inflammatory changes in infantile-onset LMNA-associated myopathy. ⁵	Komaki H...Nishino I	21632249	2011
16	Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. ⁵	Folker ES...Gundersen GG	21173262	2011
17	Two children with "dropped head" syndrome due to lamin A/C mutations. ⁵	Chemla JC...Smith EC	20886652	2010
18	Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. ⁵	Mitsuhashi H...Nishino I	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	Chaturvedi P...Parnaik VK	20498703	2010
20	Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. ⁵	Emerson LJ...Ellis JA	19524666	2009
21	Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. ⁵	Makri S...Guicheney P	19084400	2009
22	De novo LMNA mutations cause a new form of congenital muscular dystrophy. ⁵	Quijano-Roy S...Estournet B	18551513	2008
23	Laminopathies in Russian families. ⁵	Rudenskaya GE...Ginter EK	18564364	2008
24	Phenotypic clustering of lamin A/C mutations in neuromuscular patients. ⁵	Benedetti S...Previtali SC	17377071	2007
25	Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. ⁵	Rudnik-Schoneborn S...Zerres K	17136397	2007
26	Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. ⁵	Manju K...Parnaik VK	16772334	2006
27	Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. ⁵	Cenni V...Lattanzi G	15744034	2005
28	Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. ⁵	Muchir A...Bonne G	15372542	2004
29	Emery-Dreifuss Muscular Dystrophy ⁵	Bonne G...Ben Yaou R	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	Mercuri E...Bushby K	15148145	2004
31	Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. ⁵	Sanna T...Bellocci F	14659775	2003
32	Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. ⁵	Vytopil M...Toniolo D	14684700	2003
33	LMNA mutations in atypical Werner's syndrome. ⁵	Chen L...Oshima J	12927431	2003
34	Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. ⁵	Sebillon P...Komajda M	12920062	2003
35	Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. ⁵	Charniot JC...Komajda M	12673789	2003
36	A progeroid syndrome in mice is caused by defects in A-type lamins. ⁵	Mounkes LC...Stewart CL	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	Boriani G...Branzi A	12649505	2003
38	Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. ⁵	Taylor MR...Familial Dilated Cardiomyopathy Registry Research Group	12628721	2003
39	Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. ⁵	van der Kooi AJ...de Visser M	12196663	2002
40	Structure of the globular tail of nuclear lamin. ⁵	Dhe-Paganon S...Shoelson SE	11901143	2002
41	Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. ⁵	Brown CA...Spence JE	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	Bonne G...Muntoni F	10939567	2000
43	Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. ⁵	Raffaele Di Barletta M...Toniolo D	10739764	2000
44	Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. ⁵	Brodsky GL...Mestroni L	10662742	2000
45	Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. ⁵	Bonne G...Schwartz K	10080180	1999
46	A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. ⁵	van der Kooi AJ...de Visser M	8619549	1996
47	In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. ⁵	Beilke MA...Zaninovic V	1849984	1991
48	Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. ⁵³ ⁶²	Carboni N...Marrosu MG	19882644	2010
49	LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. ⁵³ ⁶²	Boschmann M...Jordan J	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	Ambrosi P...Habib G	19446900	2009

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Genes for Limb-Girdle Muscular Dystrophy Type 1b

Genes related to Limb-Girdle Muscular Dystrophy Type 1b (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LMNA	Lamin A/C	Protein Coding	436.58	Pathogenic ⁵ Likely pathogenic ⁵ Novoseek inferred ⁵³	8619549 9106535 10080180 (more) 10662742 10739764 10814726 10939567 11503164 12032588 12196663 12628721 12649505 12673789 12748643 12920062 12927431 14684700 15148145 15372542 15668447 15744034 17136397 18551513 18564364 19084400 19524666 20301609 20848652 20886652 20980393 21632249 22883396 23349452 27717888 27854218 30055862 34008892 1849984 11792809 11901143 14659775 16772334 17377071 20498703 21173262 23427149 24642510 15678000 19070492 19446900 11525883 20130076 11799477 15770669 19882644 16481476 11733221 15316618 14673599 11102973
2	CAV3	Caveolin 3	Protein Coding	9.37	Novoseek inferred ⁵³	15316618

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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

Sources

Expression for Limb-Girdle Muscular Dystrophy Type 1b

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

Sources

Pathways for Limb-Girdle Muscular Dystrophy Type 1b

Sources

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

Sources for Limb-Girdle Muscular Dystrophy Type 1b

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LMB074 MIFTS: 25	Limb-Girdle Muscular Dystrophy Type 1b Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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