|
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 |
Biomarker
|
group |
CTD_human |
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
|
30055862 |
2018 |
|
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 |
Biomarker
|
group |
BEFREE |
LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD).
|
29893365 |
2018 |
|
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 |
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 |
Among these 105 patients, the most common subtypes were LGMD2B in 52 (49.5%), LGMD2A in 26 (24.8%) and LGMD 2D in eight (7.6%), followed by LGMD1B in seven (6.7%), LGMD1E in four (3.8%), LGMD2I in three (2.9%), and LGMD2E, 2F, 2H, 2K, 2L in one patient (1.0%), respectively.
|
28403181 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy.
|
31430335 |
2019 |
|
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 |
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 |
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 |