Point mutations in Czech DMD/BMD patients and their phenotypic outcome
✍ Scribed by Jana Sedláčková; Petr Vondráček; Markéta Hermanová; Josef Zámečník; Zuzana Hrubá; Jana Haberlová; Josef Kraus; Tat’ána Maříková; Petra Hedvičáková; Stanislav Voháňka; Lenka Fajkusová
- Book ID
- 116794306
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 295 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0960-8966
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## Communicated by Johan den Dunnen Straightforward detectable Duchenne muscular dystrophy (DMD) gene rearrangements, such as deletions or duplications involving an entire exon or more, are involved in about 70% of dystrophinopathies. In the remaining 30% a variety of point mutations or ''small''
Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of