Sarcoglycanopathies

Known as: Sarcoglycanopathies [Disease/Finding], Sarcoglycanopathy 
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a… (More)
National Institutes of Health

Papers overview

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2011
2011
INTRODUCTION Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary… (More)
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2008
2008
Muscle immunoanalysis of the sarcoglycan complex is an important part of the diagnostic evaluation of muscle biopsies in patients… (More)
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2008
2008
To define the spectrum of mutations in α-, β-, γ-, and δ-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with… (More)
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2005
2005
We have designed Multiplex Amplifiable Probe Hybridization (MAPH) probes for 28 exons of the sarcoglycan genes SGCA, SGCB, SGCG… (More)
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2002
2002
Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was… (More)
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2001
2001
Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex… (More)
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2001
2001
A new clinical sign in sarcoglycanopathies is described. Patients with sarcoglycanopathies showed a phase of abduction of the… (More)
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Highly Cited
2000
Highly Cited
2000
The sarcoglycan complex is composed of four membrane-spanning dystrophin-associated proteins (DAPs) and is essential for skeletal… (More)
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1999
1999
A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and… (More)
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1999
1999
Dilated cardiomyopathy is a feature of Duchenne and Becker muscular dystrophies and occasionally of sarcoglycanopathies. Its… (More)
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