March 9, 2015International Journal of Molecular SciencesOpen Access

Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies

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Population

Patients with clinical diagnosis of Duchenne Muscular Dystrophy, including a cohort of Mexican patients and…

Design

Cross-sectional

Authors

LLLuz Berenice López-HernándezUniversidad Autónoma de Guadalajara BGBenjamín Gómez‐DíazUniversitat de Miguel Hernández d'Elx ALAlexandra Luna‐AnguloInstituto Nacional de Rehabilitación

Discussion

Member takes

Implication

Supports ancestry-informed DMD exon-skipping eligibility assessment; leaves open prospective validation of therapeutic impact.

Structured PICO

Population

Patients with clinical diagnosis of Duchenne Muscular Dystrophy (DMD), including a cohort of Mexican patients (n=162) and populations represented in the DMD Leiden Open-source Variation Database.

Outcome

Mutation profiles and theoretical applicability of exon skipping targetssurrogate

The theoretical applicability of specific exon skipping therapies for Duchenne Muscular Dystrophy varies significantly among different populations, highlighting the need for population-specific genetic profiling.

Cite This Study

López-Hernández et al. (2015) studied this question.

synapsesocial.com/papers/6a952b3fd33c5efb307cf672 https://doi.org/10.3390/ijms16035334

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Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

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