Sarcoglycanopathies
|
0.450 |
Biomarker
|
disease |
CTD_human |
|
|
|
Sarcoglycanopathies
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
|
29360879 |
2018 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
|
8528203 |
1995 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.
|
18421900 |
2007 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
|
17994539 |
2008 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.
|
15736300 |
2005 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.
|
21856579 |
2011 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
|
12566530 |
2003 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
|
9585331 |
1998 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.
|
18535179 |
2008 |
Sarcoglycanopathies
|
0.450 |
Biomarker
|
disease |
BEFREE |
LGMD patients affected with primary "sarcoglycanopathies" are classified as LGMD2D, 2E, 2C, and 2F, respectively.
|
9429136 |
1997 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
|
18252745 |
2008 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
|
10942431 |
2000 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
|
9192266 |
1997 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the sarcoglycan genes in patients with myopathy.
|
9032047 |
1997 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.
|
27120200 |
2016 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Novel sarcoglycan gene mutations in a large cohort of Italian patients.
|
12746421 |
2003 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
|
9153448 |
1997 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.
|
7663524 |
1995 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Revised spectrum of mutations in sarcoglycanopathies.
|
18285821 |
2008 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
|
18996010 |
2008 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
|
21031578 |
2010 |
Sarcoglycanopathies
|
0.450 |
Biomarker
|
disease |
BEFREE |
The findings suggest that LGMD2E is the most common form of SGCs in the Iranian population and that LGMD2D is the rarest.
|
28687063 |
2017 |
Sarcoglycanopathies
|
0.450 |
Biomarker
|
disease |
BEFREE |
This could become a valuable tool for the diagnosis of some muscular dystrophies, dystrophinopathies, sarcoglycanopathies (LGMD2D, LGMD2E, and LGMD2C), and dysferlinopathy, especially in situations where the analysis of fresh frozen muscle samples is not routinely available.
|
28219397 |
2017 |