Haplotype analysis of congenital myotonic dystrophy patients from asymptomatic DM father.
We report a family with congenital myotonic dystrophy (CDM) transmitted from an asymptomatic DM father; we analyzed the haplotype of this family by using polymorphism within and by flanking the DM protein kinase locus. One patient with congenital DM was homozygous for all markers studied, except for the expanded CTG repeats. Two other patients with congenital DM were heterozygous. One patient with congenital DM who was homozygous had greater clinical severity and more expanded CTG repeats than other CDM patients who were heterozygous. The asymptomatic father had a DM protomutation.
Tachi
N
N
School of Health Sciences, Sapporo Medical University, Japan.
Ohya
K
K
Yamagata
H
H
Miki
T
T
Kikuchi
K
K
Chiba
S
S
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005220:Fathers; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D018911:Trinucleotide Repeats