|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with limb-girdle muscular dystrophy type 1B (LGMD1B) carrying a heterozygous p.Arg377His mutation in LMNA, in whom skeletal muscle symptom onset was at the age of 65 years.
|
27220833 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
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 DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Dominant inherited Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B are due to mutations in the LMNA gene encoding lamin A/C and present similar life-threatening cardiac disease, the early diagnosis of which lacks reliable biomarkers.
|
22071332 |
2012 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B).
|
20848652 |
2011 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity.
|
20580235 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
|
20837309 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation.
|
19258295 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a).
|
19446900 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B).
|
15832002 |
2005 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Many different mutations in Lamin A/C have been identified as causing variable phenotypes, such as limb girdle muscular dystrophy type 1B, autosomal dominant and recessive Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy with atrioventricular conduction defect, and Dunnigan-type familial partial lipodystrophy should prompt us to fully investigate the skeletal and cardiac muscles in patients affected with autosomal recessive Charcot-Marie-Tooth type 2 carrying a mutation in LMNA.
|
12467734 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutation analysis of the LMNA gene by direct sequencing and found two different missense mutations: R249Q and R377L, in the EDMD2 and LGMD1B patient, respectively.
|
12032588 |
2002 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene, which encodes lamin A and lamin C. Mutations in this gene also give rise to limb girdle muscular dystrophy type 1B, dilated cardiomyopathy with atrioventricular conduction defect and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
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 DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutation in the exon 8 with LGMD1B phenotype.
|
11525883 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
GeneticVariation
|
disease |
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 DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|