First dominantly-inherited mutation of the nebulin gene identified

Takeaway

  • This study identifies a novel dominantly inherited nebulin (NEB) mutation causing mild distal myopathy presenting in childhood with foot drop.

Why this matters

    Only recessive mutations have been characterized in NEB previously; the study indicates that in some rare cases a large aberration in NEB can be dominant, while point mutations and small insertions and deletions should still be considered recessive.