An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier

Newly recognized exons induced by a spli

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy

✍ Makoto Ikezawa; Ichizo Nishino; Yu-ichi Goto; Teruhisa Miike; Ikuya Nonaka 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge