Fig. 4

An atypical family with a female proband. The proband (II2) was 17-year-old female having the following symptoms: no ambulation, creatine kinase level of 5430 U/L (normal range 24–194 U/L), muscle biopsy indicating muscular dystrophy, immunohistochemical staining indicating dystrohpin completely absent. MLPA analysis showed that the proband carried heterozygous deletion of exons 8–21. Her mother (I2) and sister (II1) was also the mutation carrier but without any symptoms, and her sister’s creatine kinase level was 421U/L (normal range 24–194 U/L). The female fetus (III1) is a female carrier and the post-natal conformation illustrate that the female fetus was not affected