TY - JOUR
T1 - Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations
AU - Raymond, Deborah
AU - Saunders-Pullman, Rachel
AU - de Carvalho Aguiar, Patricia
AU - Schule, Birgitt
AU - Kock, Norman
AU - Friedman, Jennifer
AU - Harris, Juliette
AU - Ford, Blair
AU - Frucht, Steven
AU - Heiman, Gary A.
AU - Jennings, Danna
AU - Doheny, Dana
AU - Brin, Mitchell F.
AU - de Leon Brin, Deborah
AU - Multhaupt-Buell, Trisha
AU - Lang, Anthony E.
AU - Kurlan, Roger
AU - Klein, Christine
AU - Ozelius, Laurie
AU - Bressman, Susan
PY - 2008/3/15
Y1 - 2008/3/15
N2 - Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.
AB - Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.
UR - http://www.scopus.com/inward/record.url?scp=47549104124&partnerID=8YFLogxK
U2 - 10.1002/mds.21785
DO - 10.1002/mds.21785
M3 - Journal articles
C2 - 18175340
AN - SCOPUS:47549104124
SN - 0885-3185
VL - 23
SP - 588
EP - 592
JO - Movement Disorders
JF - Movement Disorders
IS - 4
ER -
