In addition, we performed MLPA assay of DYSF gene in patients with only one pathogenic mutation to confirm the existence of exonic rearrangements in Chinese patients.
Immunohistochemical analyses were performed using primary antibodies for DYSF, sarcoglycans, and dystrophin (all from Novocastra Laboratories, Newcastle, UK).
In 41 patients, all 55 exons and the intron/exon boundary of the DYSF gene were amplified by PCR as previously described.
These mutations span the whole length of the DYSF gene.
As previously reported, the mutations found in this study span the whole length of the DYSF gene, and no mutational hot spots were identified.
At present, there is no information available on the percentage of defects in the DYSF gene caused by deletions/duplications of complete exons.
In conclusion, DYSF mutations in Chinese patients clustered in the N-terminal region of the DYSF gene.
663 1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.
Analysis of the DYSF mutational spectrum in a large cohort of patients.