|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy (LGMD) types 2D and 2F are caused by mutations in the genes encoding for α- and δ-sarcoglycan, respectively, leading to progressive muscle weakness.
|
31430305 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration.
|
28797108 |
2017 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Within sarcoglycan-δ (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog.
|
28697784 |
2017 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Furthermore, nanospan is absent from the SR of δ-SG-null (Sgcd<sup>-/-</sup>) skeletal muscle, a murine model for limb girdle muscular dystrophy 2F.
|
28587652 |
2017 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
While recessive mutations in δ-sarcoglycan cause limb girdle muscular dystrophy 2F, dominant mutations in δ-sarcoglycan have been linked to inherited dilated cardiomyopathy (DCM).
|
26968544 |
2016 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
This symposium report summarizes autonomic, cardiac and skeletal muscle abnormalities in sarcoglycan-δ-deficient mice (Sgcd-/-), a mouse model of limb girdle muscular dystrophy, with emphasis on the roles of autonomic dysregulation and activation of the renin-angiotensin system at a young age.What advances does it highlight?
|
24334334 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy.
|
19259135 |
2009 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy (DMD/BMD).
|
18996010 |
2008 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy.
|
18285821 |
2008 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the beta- and delta-sarcoglycan genes have been described in limb girdle muscular dystrophy and/or isolated DCM.
|
12794684 |
2003 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
We review our understanding of the functional status of dystrophic skeletal muscle from selected animal models with a focus on 1) the mdx mouse model of Duchenne muscular dystrophy, 2) the Bio 14.6 delta-sarcoglycan-deficient hamster model of limb-girdle muscular dystrophy, and 3) transgenic null mutant murine lines of sarcoglycan (alpha, beta, delta, and gamma) deficiencies.
|
12133845 |
2002 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations in the genes encoding each of the other components of the skeletal muscle sarcospan-sarcoglycan complex (alpha - delta sarcoglycan) have been shown to cause limb girdle muscular dystrophy (LGMD2C-F).
|
11180757 |
2001 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
The cardiomyopathic hamster is a naturally occurring model for limb-girdle muscular dystrophy caused by a primary deficiency in delta-sarcoglycan.
|
10202936 |
1999 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
We investigated the function of the sarcoglycan complex and the feasibility of sarcoglycan gene transfer for LGMD using a recombinant delta-SG adenovirus in the BIO 14.6 hamster.
|
9660967 |
1998 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Merosin immunocytochemistry was normal, and no abnormalities were detected on immunostaining for the various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, delta sarcoglycan and calpain 3).
|
9577386 |
1998 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A group of transmembrane proteins known as alpha- (adhalin) beta-, gamma- and delta-sarcoglycan are deficient in autosomal recessive limb-girdle muscular dystrophy, and the extracellular matrix protein merosin (alpha2-laminin), is deficient in a subset of patients with congenital muscular dystrophy.
|
9259292 |
1997 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Some patients with autosomal recessive limb-girdle muscular dystrophy have mutations in the genes coding for the sarcoglycan proteins (alpha-, beta-, gamma-, and delta-sarcoglycan).
|
9032047 |
1997 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
|
10735275 |
1997 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
The sarcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-, beta-, and gamma-sarcoglycan. delta-Sarcoglycan has now been identified as a second 35-kDa sarcolemmal transmembrane glycoprotein that shares high homology with gamma-sarcoglycan and is expressed mainly in skeletal and cardiac muscle.
|
8943294 |
1996 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|