Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis

Mostacciuolo, Maria Luisa; Miorin, Marta; Pegoraro, Elena; Fanin, Marina; Schiavon, F.; Vitiello, Libero; Saad, Fawzy A.; Angelini, Corrado; Danieli, G

doi:10.1159/000110334

Cited by 24 publications

(13 citation statements)

References 9 publications

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“…DMD is an X-linked recessive, fatal disorder. It has been estimated that 1 in 3,500 to 5,000 boys suffers from DMD [7, 8], and that approximately three to six of every 100,000 live births are affected by BMD [9, 10]. …”

Section: Introductionmentioning

confidence: 99%

Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line

2015

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Dystrophin (Dmd) is a structural protein that links the extracellular matrix to actin filaments in muscle fibers and is required for the maintenance of muscles integrity. Mutations in Dmd lead to muscular dystrophies in humans and other vertebrates. Here, we report the characterization of a zebrafish gene trap line that fluorescently labels the endogenous Dmd protein (Dmd-citrine, Gt(dmd-citrine) ct90a). We show that the Dmd-citrine line recapitulates endogenous dmd transcript expression and Dmd protein localization. Using this Dmd-citrine line, we follow Dmd localization to the myosepta in real-time using time-lapse microscopy, and find that the accumulation of Dmd protein at the transverse myosepta coincides with the onset of myotome formation, a critical stage in muscle maturation. We observed that Dmd protein localizes specifically to the myosepta prior to dmd mRNA localization. Additionally, we demonstrate that the Dmd-citrine line can be used to assess muscular dystrophy following both genetic and physical disruptions of the muscle.

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Section: Introductionmentioning

confidence: 99%

Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line

2015

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“…11 DMD is the most common form of muscular dystrophy in childhood, occurring in one in 3500 male births. 13 DMD is progressive, leading to loss of ambulation by 13 years. Although DMD can be inherited as an X linked condition, about one third of patients have de novo mutations.…”

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confidence: 99%

Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

Cohen

Muntoni²

2004

Heart

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“…6 Additional DMD or BMD studies were less comparable to ours, as they provided estimates per total residents rather than those for male individuals only, or reported estimates among live male births. [39][40][41][42][43][44][45][46][47] Prevalence differences identified between our study and previous studies may reflect the changes in diagnostic methods over the past quarter century; many studies 5,[8][9][10]12,16,19 predated current diagnostic methods, potentially leading to misclassification of muscular dystrophy type. Prevalence differences identified may also be due, in part, to the racial/ ethnic composition of our sample; specifically, our cases were mostly non-Hispanic white and had insufficient numbers of cases to examine estimates for some racial/ethnic groups (eg, Asian and Pacific Islander).…”

Section: Discussionmentioning

confidence: 98%

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confidence: 99%

Prevalence of Duchenne and Becker Muscular Dystrophies in the United States

2015

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Dr Romitti directed the surveillance and survey data collection in Iowa, led the study design, directed the statistical analyses, drafted the initial manuscript, and revised manuscript drafts; Dr Zhu performed statistical analysis, contributed to the initial draft, and reviewed and revised manuscript drafts; Mr Puzhankara assisted with the study design, performed initial statistical analyses, and reviewed and revised manuscript drafts; Dr James performed statistical analysis, and reviewed and revised manuscript drafts; Dr Nabukera assisted with data collection in Iowa, and reviewed and revised manuscript drafts; Dr Zamba assisted with the study design, assisted with the statistical analyses and prevalence estimation, and reviewed and revised manuscript drafts; Dr Ciafaloni contributed to the development of case definitions, led the development of the Duchenne and Becker phenotype classification, conducted clinical review of cases, and reviewed manuscript drafts; Drs Cunniff and Meaney codirected the surveillance and survey data collection in Arizona, assisted in conceptualization and design of the study, and reviewed and revised manuscript drafts; Dr Druschel directed the surveillance and survey data collection in New York, provided input and feedback on analyses, and reviewed and revised manuscript drafts; Dr Mathews led the development of case definitions, conducted clinical review of cases, and reviewed and revised manuscript drafts; Dr Matthews contributed to the development of case definitions, led the multisite clinical review committee and assignment of case definitions, conducted clinical review of cases, and reviewed manuscript drafts; Ms Andrews coordinated and supervised data acquisition in Arizona, and reviewed and revised manuscript drafts; Dr Caspers Conway assisted with oversight of data acquisition in Iowa, provided input and feedback on analyses, and reviewed and revised manuscript drafts; Ms Fox assisted with oversight of data collection in New York, provided input and feedback on analyses, and reviewed and revised manuscript drafts; Ms Street coordinated and supervised data acquisition in Georgia, and reviewed and revised manuscript drafts; Dr Adams reviewed and revised manuscript drafts; Dr Bolen coordinated the Muscular Dystrophy Surveillance, Tracking, and Research Network for the Centers for Disease Control and Prevention, and reviewed and revised manuscript drafts; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. FINANCIAL DISCLOSURE:The other authors have indicated they have no financial relationships relevant to this article to disclose. POTENTIAL CONFLICT OF INTEREST:The other authors have indicated they have no potential conflicts of interest relevant to this article to disclose. 1991-1995, 1996-2000, 2001-2005, and 2006-2010) and prevalence per 10 000 male individuals, ages 5 to 24 years, in 2010. Prevalence was also estimated by race/ethnicity and phenotype. HHS Public AccessRESULTS-Overall, 649 cases resided in an...

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Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis

Cited by 24 publications

References 9 publications

Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line

Spatio-Temporal Differences in Dystrophin Dynamics at mRNA and Protein Levels Revealed by a Novel FlipTrap Line

Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

Prevalence of Duchenne and Becker Muscular Dystrophies in the United States

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