Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides
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Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides Virginie Kergourlay, Ga€ elle Blandin, V eronique Blanck, Nicolas L evy, Marc Bartoli & Martin Krahn* Aix Marseille Universit e, GMGF, 13385 Marseille, France Inserm, UMR_S 910, 13385 Marseille, France AP-HM, D epartement de G en etique M edicale et de Biologie Cellulaire, Hôpital d’Enfants de la Timone, 13385 Marseille, France
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Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
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متن کاملA novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
OBJECTIVE Mutations in dysferlin (DYSF), a Ca(2+)-sensitive ferlin family protein important for membrane repair, vesicle trafficking, and T-tubule function, cause Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal myopathy. More than 330 pathogenic DYSF mutations have been identified within exons or near exon-intron junctions. In ~17% of patients who lack normal DYSF, only a s...
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Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol and sphingolipids. No effective therapy exists for the disease. We previously described a deep intronic point mutation (c.1554-1009 G > A) in NPC1 that generated a pseudoexo...
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