29 Citations (Scopus)


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
Issue number4
Pages (from-to)588-592
Number of pages5
Publication statusPublished - 15.03.2008


Dive into the research topics of 'Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations'. Together they form a unique fingerprint.

Cite this