Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Several important pathological mechanisms that are involved in the pathology of the LGMD include abnormalities in dystrophin-glycoprotein complex, the sarcomere, glycosylation of dystroglycan, vesicle and molecular trafficking, signal transduction pathways, and nuclear functions.
|
30536378 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Surprisingly, in another 4 patients with absence/deficiency of dystrophin in muscle biopsy, pathogenic variants were found in Limb-girdle muscular dystrophy genes.
|
30342905 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
The putative causative mutations were mostly in LGMD-associated genes, but also in genes not included in the current LGMD classification (DMD, COL6A2, and COL6A3).
|
29970176 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
LGMD 2B is caused by loss of dysferlin, a membrane repair protein, and LGMD 2C is caused by loss of the dystrophin-associated protein, γ-sarcoglycan.
|
28823869 |
2017 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Disruption of the dystrophin complex occurs in Duchenne muscular dystrophy and limb girdle muscular dystrophy, producing heart and muscle disease through a cellular injury process characterized by plasma membrane disruption and fibrosis.
|
24213858 |
2014 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
CK: DMD/BMD>PM>LGMD>LSM>FSHD>MND>SMA.LDH and AST: DMD/BMD>LSM>PM>LGMD>FSHD>SMA>MND.For MND, logCK in PMA is the highest.
|
22137979 |
2012 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively.
|
21665956 |
2011 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The dystrophin-glycoprotein complex links the extracellular matrix to the cytoskeleton, and mutations in the component of this complex cause Duchenne-type or limb-girdle-type muscular dystrophy.
|
16969582 |
2006 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD).
|
14999492 |
2004 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
These results implicate an important function of the caveolin signature sequence and common mechanisms in the pathogenesis of dystrophin-glycoprotein complex-associated muscular dystrophies with caveolin-3-deficient limb girdle muscular dystrophy.
|
11001938 |
2000 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Patients with Duchenne and Becker dystrophies lack dystrophin, while some of the limb girdle muscular dystrophies (an archaic term) are deficient in sarcoglycans and other proteins.
|
10711985 |
1999 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, whereas most of these studies point towards the pivotal role played by a number of structural proteins--all directly or indirectly associated with dystrophin--a calpain protease was shown to be involved in the Réunion-type limb girdle muscular dystrophy.
|
10723861 |
1999 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These advances have combined the approaches of positional cloning and candidate gene analysis to great effect, with the pivotal role of the dystrophin-associated complex confirmed through the involvement of at least four dystrophin-associated proteins in different subtypes of autosomal recessive LGMD (the sarcoglycanopathies).
|
10430828 |
1999 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
AlteredExpression
|
group |
BEFREE |
A diagnosis of limb-girdle muscular dystrophy was made when they were shown to have inherited different X-chromosomes and normal expression of dystrophin and all sarcoglycans.Their conditions remained static.
|
9829280 |
1998 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton.
|
10735275 |
1997 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Defects in the genes coding for the sarcoglycan proteins are limited to patients with Duchenne-like and limb-girdle muscular dystrophy with normal dystrophin and occur in 11 percent of such patients.
|
9032047 |
1997 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
This is the first indication that a cytoplasmic component of the dystrophin-associated protein complex may be involved in the pathogenesis of limb-girdle muscular dystrophy.
|
9215691 |
1997 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants.
|
8795845 |
1996 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Most isolated carriers ascertained by clinical and/or CPK levels and diagnosed by dystrophin immunostaining of muscle biopsy show symptoms of a muscular dystrophy, and often carry the diagnosis of recessive "limb-girdle muscular dystrophy" prior to dystrophin analysis.
|
8826437 |
1996 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, mutations in the genes encoding several of the dystrophin-associated proteins have been identified that produce phenotypes ranging from severe Duchenne-like autosomal recessive muscular dystrophy to the milder limb-girdle muscular dystrophies (LGMDs).
|
8923014 |
1996 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Dystrophin and merosin immunofluorescence pattern was positive in patients with all six AR LGMDs.
|
8968750 |
1996 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the genes encoding the dystrophin-associated sarcoglycan proteins (alpha, beta, gamma, and delta) (primary sarcoglycanopathies) have recently been shown to cause some cases of the genetically heterogeneous autosomal recessive muscular dystrophies (limb-girdle muscular dystrophy (LGMD) types 2D, 2E, 2C and 2F, respectively).
|
9027858 |
1996 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
These isolated female dystrophinopathy patients carried ambiguous diagnoses with presumed autosomal recessive inheritance (limb-girdle muscular dystrophy) prior to biochemical detection of dystrophin abnormalities in their muscle biopsy.
|
8198142 |
1994 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
Biomarker
|
group |
BEFREE |
Recent linkage studies showing association between various forms of LGMD and loci on chromosome 15, 13 and 5 respectively, and the demonstration of 50K dystrophin associated glycoprotein deficiency in some cases of LGMD, strongly support the notion that limb girdle muscular dystrophy constitutes a separate group of phenotypically and genotypically distinct disorders.
|
7988088 |
1994 |
Muscular Dystrophies, Limb-Girdle
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.
|
2012126 |
1991 |