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Linearized PDF PDFMetadata: Objects: 359 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Abstract Destination: sectionAbs1 Children: Item: Title: Background Destination: sectionASec1 Item: Title: Methods Destination: sectionASec2 Item: Title: Results Destination: sectionASec3 Item: Title: Conclusions Destination: sectionASec4 Item: Title: Background Destination: sectionSec1 Item: Title: Materials and methods Destination: sectionSec2 Children: Item: Title: Patients Destination: sectionSec3 Item: Title: Muscle biopsy pathological analysis Destination: sectionSec4 Item: Title: Genetic analysis Destination: sectionSec5 Item: Title: X-chromosome inactivation (XCI) analysis Destination: sectionSec6 Item: Title: XIST minimal promoter mutation analysis Destination: sectionSec7 Item: Title: Statistical analysis Destination: sectionSec8 Item: Title: Results Destination: sectionSec9 Children: Item: Title: Clinical presentation Destination: sectionSec10 Item: Title: Muscle biopsy pathological findings Destination: sectionSec11 Item: Title: Related probands and DMD mutation spectrum Destination: sectionSec12 Item: Title: X-chromosome inactivation studies (XCI) Destination: sectionSec13 Item: Title: Parental origin of most inactivated X-chromosome and inheritance of DMD mutation Destination: sectionSec14 Item: Title: Familial skewed X-chromosome inactivation and analysis of the XIST promoter Destination: sectionSec15 Item: Title: Discussion Destination: sectionSec16 Item: Title: Conclusion Destination: sectionSec17 Item: Title: Competing interests Destination: sectionartnote1 Item: Title: Authors’ contribution Destination: sectionartnote2 Item: Title: Acknowledgments Destination: sectionartnote3 Item: Title: Author details Destination: sectionaunote1 Item: Title: References Destination: sectionBib1 Info: Title: Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy 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Diseases 2012-10-23 � 2012 Juan-Mateu et al.; licensee BioMed Central Ltd. Dystrophin DMD Symptomatic carrier Duchenne muscular dystrophy Becker muscular dystrophy X-chromosome inactivation True Orphanet Journal of Rare Diseases 10.1186/1750-1172-7-82 1 1 1 � 2012 Juan-Mateu et al.; licensee BioMed Central Ltd. Orphanet Journal of Rare Diseases journal 7 reprints@biomedcentral.com 2012-10-23 1 1 Orphanet Journal of Rare Diseases Dystrophin; DMD; Symptomatic carrier; Duchenne muscular dystrophy; Becker muscular dystrophy; X-chromosome inactivation Pages: Page: Label: 0 Annotations: Annotation: Subtype: Link Rect: 114, 119, 179, 126 Annotation: Subtype: Link Rect: 287, 67, 403, 74 Thumb: true Page: Label: 1 Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 120, 610, 125, 620 Destination: 126 Annotation: Subtype: Link Rect: 142, 598, 147, 608 Destination: 126 Annotation: Subtype: Link Rect: 236, 550, 241, 560 Destination: 126 Annotation: Subtype: Link Rect: 243, 550, 248, 560 Destination: 126 Annotation: Subtype: Link Rect: 187, 490, 192, 500 Destination: 126 Annotation: Subtype: Link Rect: 195, 490, 200, 500 Destination: 126 Annotation: Subtype: Link Rect: 99, 418, 104, 428 Destination: 126 Annotation: Subtype: Link Rect: 107, 418, 117, 428 Destination: 126 Annotation: Subtype: Link 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