Condition: Becker Muscular Dystrophy


rs373286166 in DMD gene and Becker Muscular Dystrophy PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.

PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.

PMID 19793655 2009 DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

PMID 19206170 2009 DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 23453023 2013 MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28859693 2017 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.