The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

doi:10.1016/j.nmd.2004.05.002

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Article

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Neuromuscular disorders : NMD - 1 Oct 2004

Tuffery-Giraud Sylvie, Saquet Céline, Chambert Sylvie, Echenne Bernard, Marie Cuisset Jean, Rivier François, Cossée Mireille, Philippe Christophe, Monnier Nicole, Bieth Eric, Recan Dominique, Antoinette Voelckel Marie, Perelman Serge, Lambert Jean-Claude, Malcolm Sue, Claustres Mireille

Abstract excerpt

Although the majority (65%) of boys with Duchenne muscular dystrophy (DMD) carry a deletion in the dystrophin gene, finding mutations in the remaining families is vital for counselling. We have provided a comprehensive mutation service as a national referral centre for France for over 10 years and we report here our experience. Mutation screening is on mRNA from a muscle biopsy. We have detected 79 mutations in...

Topics

Biopsy
Blotting, Southern
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Dystrophin
Family Health
Federal Government
France
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphocytes

Male

Molecular Sequence Data

Muscles

Muscular Dystrophy, Duchenne

Mutation

RNA, Messenger

Referral and Consultation

Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 15351422
DOI: 10.1016/j.nmd.2004.05.002

Genes

Provenance

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