A case of paternally inherited congenital myotonic dystrophy.
We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the two CDM sisters. This family shows that exceptionally it is possible for CDM to be inherited paternally and refutes the hypothesis that CDM is exclusively of maternal origin. This contradicts several of the previous hypotheses concerning the mechanisms by which the CDM phenotype arises.
Nakagawa
M
M
Third Department of Internal Medicine, Kagoshima University, Japan.
Yamada
H
H
Higuchi
I
I
Kaminishi
Y
Y
Miki
T
T
Johnson
K
K
Osame
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D005220:Fathers; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid