|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We suggest that expression profiling will provide important information to improve our understanding of the molecular basis of laminin alpha-2 positive MDC.
|
17010933 |
2006 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy.
|
22006699 |
2011 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
|
11287370 |
2001 |
|
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 |
We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD.
|
25307854 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome.
|
29408412 |
2018 |
|
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 |
Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD).
|
28087121 |
2017 |
|
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 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This laminin-α2 deficient mutant fish represents a novel disease model to develop therapies for modulating splicing defects in congenital muscular dystrophies and to restore the muscle function in human patients with CMD.
|
22952766 |
2012 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LAMA2 gene cause laminin α‑2 (merosin)‑deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders.
|
25544356 |
2015 |
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
|
25663498 |
2015 |
|
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 |
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 |
Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin.
|
29766020 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LAMA2 gene result in a complete loss of merosin and underlie a severe congenital type of muscular dystrophy (MDC1A).We investigated the clinical, genetic, and histological basis of late-onset muscular dystrophy in one family.
|
21922472 |
2011 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Muscular dystrophies, including laminin α2 chain-deficient muscular dystrophy (LAMA2-CMD), are associated with immense personal, social and economic burdens.
|
29544677 |
2018 |
|
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 |
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 |
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 |
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 |