A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-017-0391-8
Abstract: In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation—a single exon 48 deletion of the dystrophin gene—who were affected with… read more here.
Keywords: exon deletion; muscular dystrophy; becker muscular; single exon ... See more keywords
Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.
Sign Up to like & getrecommendations! Published in 2022 at "Neurology India"
DOI: 10.4103/0028-3886.355142
Abstract: Background Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization/ligation of the probe showing up as a deletion of an exon leading to false positive results for… read more here.
Keywords: evaluation; deletion; exon deletions; single exon ... See more keywords