title: Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?
abstract: We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.
authors.affiliation: Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia.
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: M G
authors.initials: MG
authors.lastname: Layton
authors.forename: R D
authors.initials: RD
authors.lastname: Johnsen
authors.forename: D C
authors.initials: DC
authors.lastname: Chandler
authors.forename: M E
authors.initials: ME
authors.lastname: Mears
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: B A
authors.initials: BA
authors.lastname: Kakulas
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D016189:Dystrophin / Q000235:genetics*; D005315:Fetal Diseases / Q000235:genetics; D005455:Fluorescent Antibody Technique; D006239:Haplotypes; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree
chemical_list: D016189:Dystrophin; D004247:DNA