Article
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Muscle & nerve - 1 Jan 2016
Straathof Chiara S M, Van Heusden Dave, Ippel Pieternella F, Post Jan G, Voermans Nicol C, De Visser Marianne, Brusse Esther, Van Den Bergen Janneke C, Van Der Kooi Anneke J, Verschuuren Jan J G M, Ginjaar Hendrika B
Abstract excerpt
INTRODUCTION: The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. METHODS: All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no...
Topics
- Anoctamins
- Chloride Channels
- DNA Mutational Analysis
- Dystrophin
- Female
- Humans
- Male
- Muscular Dystrophy, Duchenne
- Mutation
- Retrospective Studies