Recombinant DNA study of Duchenne muscular dystrophy occurring in a myotonic dystrophy family.
A recombinant DNA study was performed in a three-generation family with 8 typical cases of late onset myotonic dystrophy (DM) and with one case of Duchenne muscular dystrophy (DMD). The study with DNA markers for chromosome 19 showed linkage of DM locus to the 3.8 Kb allele of apolipoprotein C2 (APOC2) probe and to 9 Kb allele of pSC11 probe (APOC2 lod score = 0.69 at theta = 0). The 21-year-old DMD patient showed no myotonic signs. His clinical history revealed onset with weakness around 4 years of age, progressive course with wheelchair confinement at 11, and cardiomyopathy. His karyotype was normal (46, XY). The study with 10 DNA markers for the chromosome X found a deletion limited to XJ 1.1, XJ 1.2, and XJ 2.3 probes. His 22-year-old sister with typical clinical, EMG and recombinant DNA findings characteristic for myotonic dystrophy was also a carrier of DMD deletion.
Ionasescu
V
V
Department of Pediatrics, University Hospitals, Iowa City.
Searby
C
C
Ionasescu
R
R
Burns
T
T
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19; D004274:DNA, Recombinant; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D014960:X Chromosome
D004274:DNA, Recombinant