Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy.

Abstract excerpt

Duchenne type muscular dystrophy (DMD) is an allelic X-linked recessive disorder caused by mutations in the gene encoding dystrophin. Genotype analysis has shown that deletion mutations account for approximately 65% of all cases, and 5-10% are duplications, while the remaining 30% of affected individuals may have smaller mutations, including point mutations, small deletions or small insertions. In this study, we...

Topics

• Child, Preschool
• Dystrophin
• Exons
• Humans
• Male
• Muscular Dystrophy, Duchenne
• Mutation