Home and educational environments were comparable for all children. In every group, http://www.selleckchem.com/products/wnt-c59-c59.html most of the parents (ranging from 65-80%) had graduated from high school, and around 10% had graduated from

college. The sociodemographic characteristics of the families were similar across groups. We extracted DNA from peripheral blood samples according to standard procedures, using a commercial kit (Flexi Gene DNA Handbook, Qiagen [Hilden, Germany]). Deletions were defined via multiplex polymerase chain reactions. In some patients, multiplex ligation-dependent probe amplification [24] was also performed, to screen for deletions and duplications. A direct sequence analysis of all dystrophin gene-coding exons and surrounding splicing sites was performed to detect point mutations and other microrearrangements. On the basis of the localization of molecular abnormalities along the dystrophin gene, mutations located in (or extending to) the genomic region corresponding to exons 45-55 of the dystrophin gene are considered to affect Dp140 (as well as Dp427 and Dp260; these proteins are not relevant to our study), but not Dp71. Mutations in the dystrophin gene, located upstream from exon 44, are predicted to preserve Dp140 and to affect only the expression of Dp427 and Dp260 [15]. Patients with Duchenne muscular dystrophy were further subdivided

MAPK inhibitor into two groups: 17 children (“Duchenne muscular dystrophy proximal”) carried mutations in the 5′ end of the Duchenne muscular dystrophy gene (upstream from exon 44), with 1/17 duplications, 4/17 point mutations, and 12 deletions; 25 children (“Duchenne muscular dystrophy distal”) carried mutations in the 3′ end of the Duchenne muscular dystrophy gene (downstream from exon 44), with the following distribution: 1 /25 duplications, 2/25 point mutations, and 22 deletions. Pomalidomide The group of distally deleted children consisted of 24 boys bearing mutations predicted to affect all dystrophin products,

including Dp140 but not Dp71, and one boy with a mutation affecting the expression of Dp140 and Dp71. Fourteen children in the Duchenne muscular dystrophy distal group were wheelchair-bound, and 11 were ambulant. In the Duchenne muscular dystrophy proximal group, nine were wheelchair-bound, and eight were ambulant. Only one patient in the Duchenne muscular dystrophy distal group presented with mild cardiac involvement, and one child in the Duchenne muscular dystrophy proximal group presented a very severe clinical phenotype with mild respiratory insufficiency at the time of his examination. The mean age in the two groups was comparable (Duchenne muscular dystrophy distal, mean age, 8.8 years; S.D., 1.4 years; Duchenne muscular dystrophy proximal, mean age, 9.5 years; S.D., 1.8 years; t40 = −1.25, no significance).