“…In these cases the diagnosis can be confirmed by immunohistochemical analysis of a muscle biopsy. Over the past few years, several deep intronic mutations have been described (Adachi, et al, 2003; Buzin, et al, 2005; Chaturvedi, et al, 2001; Fajkusova, et al, 2001; Hofstra, et al, 2004; Tuffery-Giraud, et al, 1999; van Essen, et al, 2003). Our targeted CGH array will allow for detection of these previously missed deep intronic deletions and duplications.…”