29 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalMovement Disorders
Volume23
Issue number4
Pages (from-to)588-592
Number of pages5
ISSN0885-3185
DOIs
Publication statusPublished - 15.03.2008

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