Research articleIntrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
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Cited by (16)
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
2014, Neuromuscular DisordersCitation Excerpt :A family with clinically discordant relatives have been previously reported by us in a maternal uncle and his nephew. But, differently from the present cases proteins and molecular analyses revealed that the uncle with a milder course had some muscle dystrophin as a result of an alternative splicing in the dystrophin gene [6,7]. Kesari et al. [8] reported a high rate of exceptions in the reading-frame rule in a study of 75 patients, mainly in BMD patients involving the N-terminal region of the gene.
Genetic modifiers of muscular dystrophy: Implications for therapy
2007, Biochimica et Biophysica Acta - Molecular Basis of DiseaseScreening for antisense modulation of dystrophin pre-mRNA splicing
2002, Neuromuscular DisordersElevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
1998, European Journal of Paediatric Neurology4. Gene Therapy of Duchenne Muscular Dystrophy
1997, Advances in Genetics
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