|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
<b>Results:</b> Totally, 62 mutations of <i>DMD</i> were found in 62 probands with DMD/BMD, and two compound heterozygous mutations in <i>LAMA2</i> were identified in two probands with MDC1A (a type of congenital MD), indicating that the diagnostic yield was 91.4% by MLPA plus NGS for MD diagnosis in this cohort.
|
31404137 |
2019 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<i>L</i><i>AMA2</i>-related muscular dystrophy (<i>LAMA2</i> MD or MDC1A) is the most frequent form of early-onset, fatal congenital muscular dystrophies.
|
28659438 |
2017 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Laminin-α2 deficient congenital muscular dystrophy (CMD) is an autosomal recessive disorder characterized by severe muscular dystrophy, which is typically associated with abnormal white matter.
|
24611677 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD.
|
28771630 |
2017 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin.
|
29766020 |
2018 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.
|
10726842 |
1998 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Blocking apoptosis ameliorates muscle disease in some mouse models of muscular dystrophy such as laminin α-2-deficient mice, but not in others such as dystrophin-deficient (mdx) mice.
|
21199860 |
2011 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
|
26304763 |
2016 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
|
12552556 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency.
|
28281577 |
2017 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
CTD_human |
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.
|
18074402 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
|
24225367 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this review, we summarize the clinical features of two of the most common congenital muscular dystrophies, COL6-related dystrophies and LAMA2-related dystrophies, which are caused by mutations in muscle ECM and basement membrane proteins.
|
29933045 |
2018 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this study, we applied next-generation sequencing-based copy number variation profiling in 114 individuals clinically diagnosed with laminin α2-related muscular dystrophy, including 96 who harboured LAMA2 mutations and 34 who harboured intragenic rearrangements.
|
30301903 |
2018 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, one of the remaining tumors has a deletion in LAMA2, bringing the number of ONBs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%.
|
30575736 |
2018 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
|
18700894 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
|
15452315 |
2004 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
|
18053718 |
2008 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
LHGDN |
Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan.
|
16504180 |
2006 |
|
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice.
|
12609502 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.
|
12467726 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
|
11938437 |
2002 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy.
|
28218617 |
2017 |