title: Two non-contiguous duplications in the DMD gene in a Spanish family.
abstract: DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant.
authors: Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain. mfenollar.hcsc@salud.madrid.org
authors: M
authors: M
authors: Fenollar-Cortés
authors: J
authors: J
authors: Gallego-Merlo
authors: M J
authors: MJ
authors: Trujillo-Tiebas
authors: I
authors: I
authors: Lorda-Sánchez
authors: C
authors: C
authors: Ayuso
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D015336:Molecular Probe Techniques; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C484258:DMD protein, human; D016189:Dystrophin