Associated Papers
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.
Neurogenetics, 2022
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
Chen J et al.
Plos One, 2015
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S et al.
Journal of Molecular Medicine (berlin, Germany), 2003
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.
Zatz M et al.
Current Opinion in Neurology, 2000
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
Tsubata S et al.
The Journal of Clinical Investigation, 2000
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Dinçer P et al.
Neuromuscular Disorders : Nmd, 2000
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
Passos-Bueno MR et al.
American Journal of Medical Genetics, 1999
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Moreira ES et al.
Journal of Medical Genetics, 1998
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex.
Vainzof M et al.
European Journal of Human Genetics : Ejhg, 0
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