Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
|
24565866 |
2014 |
Sarcoglycanopathies
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Twenty-five patients with sarcoglycanopathies (11.5%) were identified from 218 confirmed LGMDs, comprising 18 with LGMD2D, 6 with LGMD2E, and one with LGMD2C.
|
30764848 |
2019 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
|
21031578 |
2010 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
|
18996010 |
2008 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Revised spectrum of mutations in sarcoglycanopathies.
|
18285821 |
2008 |
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 |
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 |
Novel sarcoglycan gene mutations in a large cohort of Italian patients.
|
12746421 |
2003 |
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 |
Mutations in the sarcoglycan genes in patients with myopathy.
|
9032047 |
1997 |
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 |
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
|
10942431 |
2000 |
Sarcoglycanopathies
|
0.450 |
CausalMutation
|
disease |
CLINVAR |
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
|
18252745 |
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 |
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 |
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 |
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
|
12566530 |
2003 |
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 |
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.
|
15736300 |
2005 |
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 |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
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 |
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 |