Chinese researchers report for the first time mutations in the FOXK2 gene in five unrelated families:
- the clinical phenotype was that of an autosomal dominant congenital myopathy with early onset and the presence of very marked and often asymmetrical ptosis,
- five distinct pathological sequence variations were identified in the FOXK2 gene,
- this gene appears to be involved in muscle fiber development, as demonstrated by functional studies in mice and zebrafish.
This gene joins the long list of genes responsible for congenital myopathies, with the presence of ptosis being, in this case, a possible indicator.
