Anticipation in myotonic dystrophy: a parental-sex-related phenomenon.
We report anticipation in an extensive sample of myotonic dystrophy (MyD) kindreds taken from an epidemiological survey recently conducted in Guipúzcoa, Spain. Analysis of the parent-child pairs ascertained showed a mean anticipation of 2.86 decades (range 0-6). Greater anticipation occurred when the transmissor parent was the mother. These results suggest a possible sex-related effect in the transmission of the MyD gene, and are in agreement with recent discoveries at the molecular level.
López de Munain
A
A
Department of Neurology, Hospital Ntra. Sra de Aránzazu, San Sebastián, Guipúzcoa, Spain.
Blanco
A
A
Emparanza
J I
JI
Martí Massó
J F
JF
Cobo
A
A
Basauri
B
B
Martorell
L
L
Baiget
M
M
Martínez Lage
J M
JM
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009223:Myotonic Dystrophy / Q000453:epidemiology / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013030:Spain / Q000453:epidemiology