Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

• Published in: American journal of medical genetics Vol. 49; no. 3; p. 323
• Main Authors: Hoop, R C, Russo, L S, Riconda, D L, Schwartz, L S, Hoffman, E P
• Format: Journal Article
• Language: English
• Published: United States 01.02.1994
• Subjects: Adolescent; Child; DNA Mutational Analysis; Dystrophin - genetics; Female; Gene Deletion; Genetic Linkage; Haplotypes; Heterozygote; Humans; Male; Muscular Dystrophies - genetics; Oligodeoxyribonucleotides - genetics; Pedigree; Recombination, Genetic; Repetitive Sequences, Nucleic Acid

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal de...