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  3. Research By Disease

Disease: Beta-sarcoglycanopathy

  • A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping
  • Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <em>SGCB</em> Gene
  • Beta-sarcoglycanopathy
  • Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family
  • Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
  • Fatigue in muscular dystrophies
  • First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
  • LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3
  • LGMD2E patients risk developing dilated cardiomyopathy
  • Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice
  • Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy
  • Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
  • Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria
  • Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene
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