Journal of Medical Genetics · 1990 · 32 citations · 16 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsMolecular PathologyGenetic DisordersMendelian DisordersMuscle DisordersMuscular DystrophyClinical Severity ClassificationClinical Severity ScoringDeletion AnalysisDeletion Pattern AnalysisDeletion ScreeningGene Deletion SyndromesMolecular Genetic DiagnosisMuscular Dystrophy Genetics
Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the commonest deletion pattern, which was present in 49% of all deletion families, is associated with a mild phenotype.
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Dystrophin: The protein product of the duchenne muscular dystrophy locus
Eric P. Hoffman, Robert H. Brown, Louis M. Kunkel · Cell · 1987 · 4.7K citations
Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy
Sonal Malhotra, K Hart, Henry J. Klamut et al. · Science · 1988 · 285 citations