Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LMN012 MIFTS: 30	Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards integrated aliases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

Name: Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy ⁵⁸

Congenital Muscular Dystrophy Due to Laminin Alpha2 Deficiency ⁵⁸

Merosin-Negative Congenital Muscular Dystrophy ⁵⁸

Congenital Muscular Dystrophy Type 1a ⁵⁸

Cmd1a ⁵⁸

Mdc1a ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

laminin subunit alpha 2-related congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

UMLS via Orphanet ⁷² C1263858

Orphanet ⁵⁸ ORPHA258

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Summaries for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards based summary : Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy, also known as congenital muscular dystrophy due to laminin alpha2 deficiency, is related to lama2-related muscular dystrophy and cardiomyopathy, dilated, 1a. An important gene associated with Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain, tongue and skeletal muscle, and related phenotypes are intellectual disability and seizures

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Related Diseases for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Diseases in the Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy family:

Laminin Subunit Alpha 2-Related Muscular Dystrophy

Diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score
1	lama2-related muscular dystrophy	12.3
2	cardiomyopathy, dilated, 1a	11.5
3	cardiomyopathy, dilated, 1l	11.3
4	muscular dystrophy, congenital merosin-deficient, 1a	11.2
5	muscular dystrophy, congenital, lmna-related	10.6
6	muscular dystrophy	10.6
7	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.4
8	polymicrogyria	10.4
9	muscular atrophy	10.3
10	canavan disease	10.3
11	lissencephaly	10.3
12	autosomal recessive disease	10.3
13	neuromuscular disease	10.3
14	cobblestone lissencephaly	10.3
15	atrial standstill 1	10.3
16	dilated cardiomyopathy	10.3
17	marfan syndrome	10.2
18	hypotonia	10.2
19	leigh syndrome	10.1
20	scoliosis	10.1
21	peripheral nervous system disease	10.1
22	neuropathy	10.1
23	limb-girdle muscular dystrophy	10.1
24	progressive muscular dystrophy	10.1
25	neurometabolic disease	10.1

Graphical network of the top 20 diseases related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

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Symptoms & Phenotypes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Human phenotypes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

⁵⁸ (show top 50) (show all 54)

#	Description	Orphanet Frequency
1	intellectual disability ⁵⁸	Frequent (79-30%)
2	seizures ⁵⁸	Frequent (79-30%)
3	scoliosis ⁵⁸	Occasional (29-5%)
4	dysphagia ⁵⁸	Occasional (29-5%)
5	facial palsy ⁵⁸	Frequent (79-30%)
6	muscular hypotonia ⁵⁸	Very frequent (99-80%)
7	muscle weakness ⁵⁸	Very frequent (99-80%)
8	respiratory insufficiency ⁵⁸	Very rare (<4-1%)
9	hyperlordosis ⁵⁸	Occasional (29-5%)
10	macroglossia ⁵⁸	Frequent (79-30%)
11	neonatal hypotonia ⁵⁸	Occasional (29-5%)
12	abnormality of visual evoked potentials ⁵⁸	Occasional (29-5%)
13	flexion contracture ⁵⁸	Frequent (79-30%)
14	gastroesophageal reflux ⁵⁸	Very frequent (99-80%)
15	cognitive impairment ⁵⁸	Occasional (29-5%)
16	abnormality of metabolism/homeostasis ⁵⁸	Very frequent (99-80%)
17	emg abnormality ⁵⁸	Frequent (79-30%)
18	arrhythmia ⁵⁸	Occasional (29-5%)
19	pulmonary arterial hypertension ⁵⁸	Very rare (<4-1%)
20	open mouth ⁵⁸	Occasional (29-5%)
21	myositis ⁵⁸	Very frequent (99-80%)
22	cardiomyopathy ⁵⁸	Occasional (29-5%)
23	inability to walk ⁵⁸	Very frequent (99-80%)
24	reduced tendon reflexes ⁵⁸	Occasional (29-5%)
25	motor delay ⁵⁸	Very frequent (99-80%)
26	absence seizure ⁵⁸	Occasional (29-5%)
27	respiratory failure ⁵⁸	Very frequent (99-80%)
28	focal-onset seizure ⁵⁸	Occasional (29-5%)
29	protruding tongue ⁵⁸	Occasional (29-5%)
30	atelectasis ⁵⁸	Occasional (29-5%)
31	weak cry ⁵⁸	Very frequent (99-80%)
32	decreased body weight ⁵⁸	Occasional (29-5%)
33	pachygyria ⁵⁸	Occasional (29-5%)
34	hypokinesia ⁵⁸	Very frequent (99-80%)
35	muscular dystrophy ⁵⁸	Very frequent (99-80%)
36	congenital muscular dystrophy ⁵⁸	Very frequent (99-80%)
37	increased connective tissue ⁵⁸	Very frequent (99-80%)
38	absent muscle fiber merosin ⁵⁸	Very frequent (99-80%)
39	highly elevated creatine phosphokinase ⁵⁸	Very frequent (99-80%)
40	muscle fiber atrophy ⁵⁸	Very frequent (99-80%)
41	cerebral edema ⁵⁸	Frequent (79-30%)
42	astrocytosis ⁵⁸	Frequent (79-30%)
43	recurrent lower respiratory tract infections ⁵⁸	Frequent (79-30%)
44	aspiration ⁵⁸	Frequent (79-30%)
45	impaired mastication ⁵⁸	Frequent (79-30%)
46	abnormality of the temporomandibular joint ⁵⁸	Frequent (79-30%)
47	abnormal brainstem mri signal intensity ⁵⁸	Frequent (79-30%)
48	lissencephaly ⁵⁸	Occasional (29-5%)
49	myopathic facies ⁵⁸	Occasional (29-5%)
50	hypoventilation ⁵⁸	Occasional (29-5%)

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Drugs & Therapeutics for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation	Withdrawn	NCT01952028

Search NIH Clinical Center for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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Genetic Tests for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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Anatomical Context for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

MalaCards organs/tissues related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

⁴⁰

Brain, Tongue, Skeletal Muscle, Skin

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Publications for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Articles related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

(show all 33)

#	Title	Authors	PMID	Year
1	LAMA2-Related Muscular Dystrophy ⁶	Quijano-Roy S...Rutkowski A	22675738	2012
2	Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders ⁶	Makitie O...Vakkilainen S	22420014	2012
3	Consensus statement on standard of care for congenital muscular dystrophies. ⁶	Wang CH...International Standard of Care Committee for Congenital Muscular Dystrophy	21078917	2010
4	LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. ⁶	Oliveira J...Bronze-da-Rocha E	18700894	2008
5	LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. ⁶	Di Blasi C...Mora M	16216942	2005
6	Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. ⁶	Coral-Vazquez RM...Salamanca F	12601554	2003
7	Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. ⁶	He Y...Guicheney P	11591858	2001
8	Congenital Muscular Dystrophy Overview ⁶	Sparks SE...Pegoraro E	20301468	2001
9	PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. ⁶	Guicheney P...Tryggvason K	9541105	1998
10	Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. ⁶	Helbling-Leclerc A...Tryggvason K	7550355	1995
11	Merosin-negative congenital muscular dystrophy: Report of five cases. ⁶¹	Incecik F...Altunbasak S	26962340	2015
12	Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. ⁶¹	Nilipor Y...Tonekaboni SH	24665292	2013
13	Merosin-deficient congenital muscular dystrophy type 1A. ⁶¹	Buteica E...Zavaleanu M	18516331	2008
14	Brain MRI features of merosin-negative congenital muscular dystrophy. ⁶¹	Ibrahim Abdulla JK...Abubacker S	17991069	2007
15	Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. ⁶¹	Alkan A...Yakinci C	17690079	2007
16	Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. ⁶¹	Aslan M...Zorludemir S	15862197	2005
17	Merosin-deficient congenital muscular dystrophy in two siblings. ⁶¹	Hui CM...Loo KT	15591603	2004
18	Merosin negative congenital muscular dystrophy: a short report. ⁶¹	Ralte AM...Sarkar C	14652462	2003
19	Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies. ⁶¹	Petrini S...Bertini E	12812755	2003
20	Congenital muscular dystrophy in Israeli families. ⁶¹	Rachmiel M...Shahar E	12150578	2002
21	Nonmuscular involvement in merosin-negative congenital muscular dystrophy. ⁶¹	Gilhuis HJ...Gabreels FJ	11814732	2002
22	A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. ⁶¹	Al-Ajmi MO...Neubauer D	12184464	2001
23	Expression of laminin alpha1, alpha2, alpha4, and alpha5 chains, fibronectin, and tenascin-C in skeletal muscle of dystrophic 129ReJ dy/dy mice. ⁶¹	Ringelmann B...Sorokin L	9882526	1999
24	Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. ⁶¹	Mackay MT...Dennett X	9796753	1998
25	Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. ⁶¹	Marbini A...Gemignani F	9255383	1997
26	Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. ⁶¹	Echenne B...Pons F	9185183	1997
27	Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. ⁶¹	Mora M...Morandi L	8938702	1996
28	Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. ⁶¹	Pini A...Gobbi G	8879653	1996
29	Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. ⁶¹	Yamashita Y...Nonaka I	8733905	1996
30	Basement membrane abnormality in merosin-negative congenital muscular dystrophy. ⁶¹	Osari S...Nonaka I	8928608	1996
31	Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. ⁶¹	Sunada Y...Campbell KP	7501163	1995
32	Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. ⁶¹	Hayashi YK...Arahata K	7643867	1995
33	Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. ⁶¹	Hillaire D...Evangelista T	7833925	1994

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Genes for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Genes related to Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LAMA2	Laminin Subunit Alpha 2	Protein Coding	750	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸	11591858 22420014 18700894 (more) 12601554 7550355 16216942 20301468 22675738 9541105 21078917

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Variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

ClinVar genetic disease variations for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy:

⁶ (show top 50) (show all 268) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LAMA2	NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer)	deletion	Pathogenic	196993	rs794727594	6:129714215-129714215	6:129393070-129393070
2	LAMA2	NM_000426.3(LAMA2):c.2749+1G>C	SNV	Pathogenic	194920	rs759555791	6:129609204-129609204	6:129288059-129288059
3	LAMA2	LAMA2, 1-BP DEL, 8314A	deletion	Pathogenic	14292
4	LAMA2	NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro)	SNV	Pathogenic	14294	rs121913570	6:129802526-129802526	6:129481381-129481381
5	LAMA2	LAMA2, 2-BP DEL, 2098AG	deletion	Pathogenic	14295
6	LAMA2	NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter)	SNV	Pathogenic	14296	rs121913572	6:129802567-129802567	6:129481422-129481422
7	LAMA2	NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter)	SNV	Pathogenic	14299	rs121913575	6:129674430-129674430	6:129353285-129353285
8	LAMA2	NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter)	SNV	Pathogenic	14300	rs121913576	6:129785589-129785589	6:129464444-129464444
9	LAMA2	NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter)	SNV	Pathogenic	14301	rs121913577	6:129618874-129618874	6:129297729-129297729
10	LAMA2	NM_000426.3(LAMA2):c.825del (p.Tyr276fs)	deletion	Pathogenic	14302	rs1562275792	6:129468109-129468109	6:129146964-129146964
11	LAMA2	NM_000426.3(LAMA2):c.7750-1713_7899-2153del	deletion	Pathogenic	14303		6:129805906-129810893	6:129484761-129489748
12	LAMA2	NM_001079823.2(LAMA2):c.1854_1861dup (p.Leu621fs)	duplication	Pathogenic	38339	rs202247791	6:129571327-129571328	6:129250182-129250183
13	LAMA2	LAMA2, IVS30, A-T, -2	SNV	Pathogenic	14289
14	LAMA2	NM_000426.3(LAMA2):c.3630del (p.Ile1210fs)	deletion	Pathogenic	92954	rs398123372	6:129636694-129636694	6:129315549-129315549
15	LAMA2	NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter)	SNV	Pathogenic	92956	rs398123373	6:129637234-129637234	6:129316089-129316089
16	LAMA2	NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter)	SNV	Pathogenic	92971	rs398123378	6:129748945-129748945	6:129427800-129427800
17	LAMA2	NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)	SNV	Pathogenic	92980	rs398123383	6:129781432-129781432	6:129460287-129460287
18	LAMA2	NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter)	SNV	Pathogenic	235805	rs773209126	6:129486817-129486817	6:129165672-129165672
19	LAMA2	NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV	Pathogenic	287913	rs758775001	6:129712680-129712680	6:129391535-129391535
20	LAMA2	NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter)	SNV	Pathogenic	265426	rs747349942	6:129722399-129722399	6:129401254-129401254
21	LAMA2	NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg)	SNV	Pathogenic	266017	rs886039896	6:129826462-129826462	6:129505317-129505317
22	LAMA2	NM_000426.3(LAMA2):c.3799_3821del (p.Phe1267fs)	deletion	Pathogenic	280520	rs750220830	6:129636968-129636990	6:129315823-129315845
23	LAMA2	NM_000426.3(LAMA2):c.396+1G>T	SNV	Pathogenic	282977	rs770617208	6:129381042-129381042	6:129059897-129059897
24	LAMA2	NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter)	SNV	Pathogenic	284984	rs756854513	6:129637306-129637306	6:129316161-129316161
25	LAMA2	NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter)	SNV	Pathogenic	287489	rs886043648	6:129465223-129465223	6:129144078-129144078
26	LAMA2	NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter)	SNV	Pathogenic	431964	rs762806915	6:129785516-129785516	6:129464371-129464371
27	LAMA2	NM_000426.3(LAMA2):c.397-4_478del	deletion	Pathogenic	437434	rs1554217494	6:129419314-129419399	6:129098169-129098254
28	LAMA2	NM_000426.3(LAMA2):c.7452-1G>A	SNV	Pathogenic	437435	rs1554304931	6:129799837-129799837	6:129478692-129478692
29	LAMA2	NM_000426.3(LAMA2):c.3924+2T>C	SNV	Pathogenic	447685	rs1554269966	6:129637097-129637097	6:129315952-129315952
30	LAMA2	NM_000426.3(LAMA2):c.5234+1G>A	SNV	Pathogenic	447687	rs781376927	6:129712799-129712799	6:129391654-129391654
31	LAMA2	NM_000426.3(LAMA2):c.5866-2A>G	SNV	Pathogenic	477495	rs1554295204	6:129748895-129748895	6:129427750-129427750
32	LAMA2	NM_000426.3(LAMA2):c.7658del (p.Ser2553fs)	deletion	Pathogenic	477507	rs1293303410	6:129802493-129802493	6:129481348-129481348
33	LAMA2	NM_000426.3(LAMA2):c.8155G>T (p.Glu2719Ter)	SNV	Pathogenic	500711	rs1289855948	6:129813539-129813539	6:129492394-129492394
34	LAMA2	NM_000426.3(LAMA2):c.939_940del (p.Cys314fs)	deletion	Pathogenic	477529	rs1209130981	6:129470153-129470154	6:129149008-129149009
35	LAMA2	NM_000426.3(LAMA2):c.1300C>T (p.Arg434Ter)	SNV	Pathogenic	477436	rs1374568851	6:129486814-129486814	6:129165669-129165669
36	LAMA2	NM_000426.3(LAMA2):c.2T>C (p.Met1Thr)	SNV	Pathogenic	477459	rs374403765	6:129204392-129204392	6:128883247-128883247
37	LAMA2	NM_000426.3(LAMA2):c.363C>A (p.Tyr121Ter)	SNV	Pathogenic	551699	rs535635043	6:129381008-129381008	6:129059863-129059863
38	LAMA2	NM_000426.3(LAMA2):c.2230C>T (p.Arg744Ter)	SNV	Pathogenic	554268	rs775676341	6:129588272-129588272	6:129267127-129267127
39	LAMA2	NM_000426.3(LAMA2):c.5156_5159del (p.Lys1719fs)	deletion	Pathogenic	551648	rs1554286963	6:129712717-129712720	6:129391572-129391575
40	LAMA2	NM_000426.3(LAMA2):c.3085C>T (p.Arg1029Ter)	SNV	Pathogenic	551522	rs145420388	6:129621928-129621928	6:129300783-129300783
41	LAMA2	NM_000426.3(LAMA2):c.7490_7493dup (p.Asp2498fs)	duplication	Pathogenic	558356	rs1480934961	6:129799874-129799875	6:129478729-129478730
42	LAMA2	NM_000426.3(LAMA2):c.1122del (p.Gly376fs)	deletion	Pathogenic	552820	rs1338860420	6:129475744-129475744	6:129154599-129154599
43	LAMA2	NM_000426.3(LAMA2):c.3955C>T (p.Arg1319Ter)	SNV	Pathogenic	623353	rs1180309541	6:129637213-129637213	6:129316068-129316068
44	LAMA2	NM_001079823.2(LAMA2):c.4959+1del	deletion	Pathogenic	689487		6:129691134-129691134	6:129369989-129369989
45	LAMA2	NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)	deletion	Pathogenic	800887		6:129573234-129573238	6:129252089-129252093
46	LAMA2	NM_001079823.2(LAMA2):c.1255del (p.Ile419fs)	deletion	Pathogenic	802260		6:129486768-129486768	6:129165623-129165623
47	LAMA2	NM_001079823.2(LAMA2):c.3329del (p.Leu1110fs)	deletion	Pathogenic	802262		6:129634160-129634160	6:129313015-129313015
48	LAMA2	NM_001079823.2(LAMA2):c.3560_3561CT[1] (p.Leu1188fs)	short repeat	Pathogenic	802263		6:129636625-129636626	6:129315480-129315481
49	LAMA2	NM_001079823.2(LAMA2):c.4739dup (p.Leu1581fs)	duplication	Pathogenic	802264		6:129687383-129687384	6:129366238-129366239
50	LAMA2	NM_001079823.2(LAMA2):c.4936G>T (p.Glu1646Ter)	SNV	Pathogenic	802265		6:129691112-129691112	6:129369967-129369967

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Expression for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

Search GEO for disease gene expression data for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy.

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Pathways for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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GO Terms for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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Sources for Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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