Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
|
9106535 |
1997 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Twenty-three different mutations of LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD2), three mutations were reported to cause limb-girdle muscular dystrophy (LGMD1B), eight mutations are known to result in dilated cardiomyopathy (CMD1A), and seven mutations were reported to cause familial partial lipodystrophy (FPL).
|
11102973 |
2000 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
|
10814726 |
2000 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
CTD_human |
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
|
10814726 |
2000 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
|
11525883 |
2001 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD).
|
11709282 |
2001 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Lamin A/C mutations also cause one form of dilated cardiomyopathy (CMD1A) and one form of limb-girdle muscular dystrophy (LGMD1B), both of which have clinical features in common with EDMD, as well as a rare, unrelated form of lipodystrophy (FPLD).
|
11733221 |
2001 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in different domains of the LMNA (lamin A/C) gene encoding nuclear envelope proteins lamin A and lamin C cause familial partial lipodystrophy (Dunnigan variety), dilated cardiomyopathy, and autosomal dominant forms of Emery-Dreifuss and limb-girdle muscular dystrophies.
|
12015247 |
2002 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
|
12032588 |
2002 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
CTD_human |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
|
12032588 |
2002 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
|
12032588 |
2002 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
BEFREE |
At the same time, this progress blurs the traditional boundaries between the categories of congenital and limb-girdle muscular dystrophies, as well as between limb-girdle muscular dystrophies and other clinical entities, as mutations in genes such as fukutin-related protein, dysferlin, caveolin-3 and lamin A/C can cause a striking variety of phenotypes.
|
14967765 |
2004 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
BEFREE |
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B).
|
15770669 |
2005 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
BEFREE |
Screening of four Emery-Dreifuss and one limb girdle muscular dystrophy 1B cases was undertaken to investigate lamin A/C phosphorylation in both cultured myoblasts and mature muscle fibres.
|
15744034 |
2005 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
|
17605093 |
2007 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Family members were considered to be affected if they demonstrated conduction system defects, limb-girdle muscular dystrophy, dilated cardiomyopathy, carried the lamin A/C mutation or suffered sudden death.
|
17605093 |
2007 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD).
|
18646565 |
2007 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.
|
20092787 |
2009 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
Biomarker
|
group |
BEFREE |
The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects).
|
20225280 |
2010 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Carbohydrate and lipid metabolism was studied on 10 FPLD patients, one patient with limb-girdle muscular dystrophy (LGMD1B, a different lamin A/C disease), and 10 healthy control subjects before and during an oral glucose tolerance test by indirect calorimetry and im microdialysis.
|
20130076 |
2010 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In the last years, the spectrum of conditions has been extraordinarily enlarged, from a congenital muscular dystrophy with severe paralytic or rapidly progressive picture due to de novo mutations in LMNA (L-CMD) to a limb-girdle muscular dystrophy with adult onset and much milder weakness (LGMD1B).
|
23622360 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
|
23746545 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We identified heterozygous mutations (c.80C> T; pT27I) in the LMNA gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy.
|
25256213 |
2015 |