|
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Spine is severely affected in LMNA-linked congenital muscular dystrophy.
|
29854317 |
2018 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications.
|
27876398 |
2017 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy.
|
28125586 |
2017 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively).
|
25653289 |
2015 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although lamin A/C--related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.
|
24508248 |
2014 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Of the 78 patients, 37 (47%) had limb-girdle muscular dystrophy 1B (LGMD1B), 18 (23%) congenital muscular dystrophy (MDCL), 17 (22%) autosomal dominant Emery-Dreifuss muscular dystrophy 2 (EDMD2), and 6 (8%) an atypical myopathy.
|
25274841 |
2014 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus, white matter involvement might be a feature in A-type lamin-related congenital muscular dystrophy, warranting screening of these patients for both white matter lesions and cognitive impairment.
|
24684859 |
2014 |
|
Congenital muscular dystrophy (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 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Because of the survival benefit of early diagnosis and treatment, we recommend that LMNA gene sequencing be performed in all patients with undiagnosed congenital muscular dystrophy and neck extensor weakness, all patients with genetically undiagnosed LGMD, and those with suggestive clinical signs and nonspecific histologic abnormalities.
|
22491857 |
2012 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
|
22240398 |
2012 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This report broadens the spectrum of lamin A/C gene mutations and illustrates the phenotypic variability of laminopathies with early onset congenital muscular dystrophy.
|
20837309 |
2010 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
|
19084400 |
2009 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
|
18551513 |
2008 |
|
Congenital muscular dystrophy (disorder)
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital muscular dystrophy (disorder)
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|