February 1, 1992Journal of Medical GeneticsOpen Access

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

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Population

115 unrelated Duchenne Muscular Dystrophy and Becker Muscular Dystrophy patients from north-east Italy

Design

Cross-sectional

Authors

LVLibero VitielloUniversity of Padua MMM.L. MostacciuoloUniversity of Padua SOSalvatore OlivieroItalian institute for Genomic Medicine

Discussion

Member takes

Implication

Supports targeted deletion screening over promoter analysis in DMD/BMD; leaves open contributions of other variants in mutation-negative cases.

Structured PICO

Population

115 unrelated Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) patients from north-east Italy

Intervention

Screening for mutations in the muscle promoter region and exonic deletions

Outcome

Presence of mutations in the muscle promoter region and exonic deletions

The study found no gross mutations in the muscle promoter region among DMD and BMD patients, with most coding sequence deletions occurring in a known hot spot.

Cite This Study

Vitiello et al. (1992) studied this question.

synapsesocial.com/papers/6a85809ae954a56a77ad99fa https://doi.org/10.1136/jmg.29.2.127

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Bookmark

Implication

Supports targeted deletion screening over promoter analysis in DMD/BMD; leaves open contributions of other variants in mutation-negative cases.

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider