MCID: LM2002
MIFTS: 11

Lama2 Muscular Dystrophy

Categories: Muscle diseases

Aliases & Classifications for Lama2 Muscular Dystrophy

MalaCards integrated aliases for Lama2 Muscular Dystrophy:

Name: Lama2 Muscular Dystrophy 25
Laminin Α2 Chain-Deficiency 25

Classifications:



Summaries for Lama2 Muscular Dystrophy

MalaCards based summary : Lama2 Muscular Dystrophy, also known as laminin α2 chain-deficiency, is related to muscular dystrophy and congenital muscular dystrophy type 1a. An important gene associated with Lama2 Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include skeletal muscle.

GeneReviews: NBK97333

Related Diseases for Lama2 Muscular Dystrophy

Diseases related to Lama2 Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 12, show less)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 10.3
2 congenital muscular dystrophy type 1a 10.2
3 gastroesophageal reflux 10.1
4 macroglossia 10.1
5 rigid spine muscular dystrophy 1 10.1
6 muscular dystrophy, congenital merosin-deficient, 1a 10.1
7 muscular dystrophy, congenital, lmna-related 10.1
8 muscle hypertrophy 10.1
9 scoliosis 10.1
10 hypotonia 10.1
11 laminin subunit alpha 2-related congenital muscular dystrophy 10.1
12 laminin subunit alpha 2-related muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Lama2 Muscular Dystrophy:



Diseases related to Lama2 Muscular Dystrophy

Symptoms & Phenotypes for Lama2 Muscular Dystrophy

Drugs & Therapeutics for Lama2 Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Lama2 Muscular Dystrophy

Genetic Tests for Lama2 Muscular Dystrophy

Anatomical Context for Lama2 Muscular Dystrophy

MalaCards organs/tissues related to Lama2 Muscular Dystrophy:

40
Skeletal Muscle

Publications for Lama2 Muscular Dystrophy

Articles related to Lama2 Muscular Dystrophy:

(showing 71, show less)
# Title Authors PMID Year
1
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy. 25 61
31308722 2019
2
Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment. 25 61
26610911 2015
3
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. 25 61
22166137 2011
4
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. 25
32444167 2020
5
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. 25
32266982 2020
6
Congenital muscular dystrophies in China. 25
31066047 2019
7
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. 25
31040037 2019
8
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. 25
29802573 2018
9
Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies. 25
29191403 2018
10
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. 25
30055037 2018
11
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 25
30055862 2018
12
Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy. 25
29487616 2018
13
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 25
28688748 2017
14
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. 25
27932089 2017
15
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 25
27159402 2016
16
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 25
27858741 2015
17
Prevalence of congenital muscular dystrophy in Italy: a population study. 25
25653289 2015
18
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 25
24611677 2015
19
Glycobiology of α-dystroglycan and muscular dystrophy. 25
25381372 2015
20
Integrating Activities of Laminins that Drive Basement Membrane Assembly and Function. 25
26610910 2015
21
The extracellular matrix protein laminin α2 regulates the maturation and function of the blood-brain barrier. 25
25392494 2014
22
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 25
25124546 2014
23
Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. 25
24957499 2014
24
Atypical phenotype in two patients with LAMA2 mutations. 25
24534542 2014
25
Diagnostic approach to the congenital muscular dystrophies. 25
24581957 2014
26
Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients. 25
27858771 2014
27
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype? 25
22006699 2011
28
Clinical and pathological heterogeneity in late-onset partial merosin deficiency. 25
21922472 2011
29
Consensus statement on standard of care for congenital muscular dystrophies. 25
21078917 2010
30
Congenital muscular dystrophies with cognitive impairment. A population study. 25
20820001 2010
31
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 25
20207543 2010
32
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 25
18406646 2009
33
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 25
18700894 2008
34
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 25
16216942 2005
35
A simplified laminin nomenclature. 25
15979864 2005
36
Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. 25
15703311 2005
37
Functional sites in the laminin alpha chains. 25
16147852 2005
38
EMG and nerve conduction studies in children with congenital muscular dystrophy. 25
14755496 2004
39
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. 25
14659414 2004
40
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. 25
12661054 2003
41
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 25
12552556 2003
42
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). 25
11938437 2002
43
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. 25
11584042 2001
44
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 25
11591858 2001
45
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. 25
11369186 2001
46
The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation. 25
11245532 2001
47
Laminins: an overview. 25
11054871 2000
48
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. 25
10677857 2000
49
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. 25
10545041 1999
50
Feeding problems in merosin deficient congenital muscular dystrophy. 25
10332004 1999
51
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. 25
10220862 1999
52
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 25
9674786 1998
53
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 25
9541105 1998
54
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. 25
8879653 1996
55
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 25
7501163 1995
56
Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy. 61
32197453 2020
57
Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency. 61
31586140 2019
58
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study. 61
30389963 2018
59
Laminin α1 reduces muscular dystrophy in dy2J mice. 61
29544677 2018
60
Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. 61
29766020 2018
61
Child Neurology: LAMA2 muscular dystrophy without contractures. 61
28533353 2017
62
Potent pro-inflammatory and pro-fibrotic molecules, osteopontin and galectin-3, are not major disease modulators of laminin α2 chain-deficient muscular dystrophy. 61
28281577 2017
63
Bortezomib Does Not Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy. 61
26731667 2016
64
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 61
25663498 2015
65
Quantitative proteomic analysis reveals metabolic alterations, calcium dysregulation, and increased expression of extracellular matrix proteins in laminin α2 chain-deficient muscle. 61
24994560 2014
66
Laminin α2 Chain-Deficiency is Associated with microRNA Deregulation in Skeletal Muscle and Plasma. 61
25071564 2014
67
LAMA2 Muscular Dystrophy 61
22675738 2012
68
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A. 61
21920942 2011
69
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. 61
21441569 2011
70
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. 61
21798088 2011
71
Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice. 61
21084425 2011

Variations for Lama2 Muscular Dystrophy

Expression for Lama2 Muscular Dystrophy

Search GEO for disease gene expression data for Lama2 Muscular Dystrophy.

Pathways for Lama2 Muscular Dystrophy

GO Terms for Lama2 Muscular Dystrophy

Sources for Lama2 Muscular Dystrophy

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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