December 1, 1996Human Molecular GeneticsOpen Access

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

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Population

15 patients from the Brazilian limb-girdle muscular dystrophy patient population, 13 of whom followed a…

Design

Case_series

Authors

CBC. BönnemannBoston Children's Hospital

Discussion

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Implication

Supports beta-sarcoglycan screening in severe childhood LGMD; leaves open diagnostic utility pending larger validation studies.

Structured PICO

Population

15 patients from the Brazilian limb-girdle muscular dystrophy (LGMD) patient population, 13 of whom followed a severe course.

Intervention

Genomic screening for beta-sarcoglycan gene mutations directly from genomic DNA using PCR amplification and single strand conformation polymorphism (SSCP) analysis.

Outcome

Identification of mutations in the beta-sarcoglycan gene.surrogate

Genomic screening of the beta-sarcoglycan gene directly from DNA identified novel missense mutations that cause severe childhood-onset limb-girdle muscular dystrophy type 2E.

Cite This Study

C. Bönnemann (1996) studied this question.

synapsesocial.com/papers/69df7169de200760a8615234 https://doi.org/10.1093/hmg/5.12.1953

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Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider