|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).
|
31653707 |
2019 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models.
|
30389963 |
2018 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD; n = 21) or laminin α-2-related disorders (LAMA2-RD; n = 20), and 21 healthy pediatric controls underwent 2 yearly EIM exams.
|
28224647 |
2018 |
|
Coronary Microvascular Disease
|
0.100 |
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 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Reactance, however, was decreased in COL6 but not LAMA2 CMD compared with controls (P < 0.001).
|
26179210 |
2016 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD).
|
25307854 |
2015 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we assessed 43 CMD patients with typical white matter abnormality and laminin-α2 deficiency (complete or partial) diagnosed by immunohistochemistry to determine the clinical and molecular genetic characteristics of laminin-α2 deficient CMD.
|
24611677 |
2015 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.
|
25663498 |
2015 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2).
|
22952766 |
2012 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed two distinct mutations: a c.8005delT frameshift deletion in exon 56 of the LAMA2 (laminin-α2) gene (MDC1A) was found in the CMD patient and a new homozygous mutation c.1536+1G>T in the donor splice site of intron 12 of the CAPN3 (calpain3) gene (LGMD2A) was found in the LGMD patients.
|
20477750 |
2011 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases.
|
12552556 |
2003 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The laminina2-chain gene (LAMA2) encodes a basal lamina protein, laminina2, known to be deficient in one form of congenital muscular dystrophy (CMD).
|
10694916 |
1998 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of laminin alpha2 chain caused by mutations of the LAMA2 gene on chromosome 6q2 account for approximately 50% of cases of congenital muscular dystrophy (CMD) in white patients.
|
9674785 |
1998 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
An additional case of CMD had a partial deficiency of laminin alpha 2 in the skin and severe motor disability, but a normal MRI.
|
9309712 |
1997 |
|
Coronary Microvascular Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the 'merosin-deficient' subgroup, which represents about half of the cases, more definite evidence of the involvement of the laminin alpha2-chain has recently been reported with the identification of mutations in the gene encoding the alpha2-chain of laminin 2 (LAMA2) in CMD patients.
|
9158149 |
1997 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately half the cases of classical congenital muscular dystrophy (CMD) have a pronounced deficiency or absence of the laminin alpha 2 chain of laminin-2 (merosin).
|
9185180 |
1997 |
|
Coronary Microvascular Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene.
|
9027848 |
1996 |