Muscular Dystrophies, Limb-Girdle
|
0.600 |
GeneticVariation
|
group |
BEFREE |
LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene.
|
31034989 |
2020 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
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
|
0.600 |
Biomarker
|
group |
BEFREE |
Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database.
|
29869469 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
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
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein.
|
26205529 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
BEFREE |
Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hsp40 co-chaperone.
|
26362252 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
GeneticVariation
|
group |
BEFREE |
DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D).
|
26338452 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
GeneticVariation
|
group |
BEFREE |
DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy.
|
24170373 |
2014 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
BEFREE |
One such example recently discovered is limb-girdle muscular dystrophy type 1D (LGMD1D), which is caused by mutation of the HSP40 chaperone DNAJB6.
|
24920671 |
2014 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
CTD_human |
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
|
23687351 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
GeneticVariation
|
group |
BEFREE |
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
|
23687351 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
BEFREE |
DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D).
|
23394708 |
2013 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
BEFREE |
Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive.
|
22366786 |
2012 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
BEFREE |
Limb girdle muscular dystrophy 1D/1E (OMIM nomenclature LGMD1D, Human Gene Nomenclature Committee LGMD1E), a skeletal and cardiac myopathy, has previously been linked to chromosome 6q23.
|
22275259 |
2012 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
GeneticVariation
|
group |
BEFREE |
This article illustrates the importance of analysing the desmin gene in patients with (familial) cardiac conduction disease, dilated cardiomyopathy and/or a progressive skeletal myopathy resembling limb-girdle muscular dystrophy.
|
17720647 |
2007 |
Muscular Dystrophies, Limb-Girdle
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
|
10545598 |
1999 |