Ron Wevers, Saskia Wortmann and colleagues show that mutations in SERAC1 cause a recessive syndrome characterized by deafness, encephalopathy, progressive spasticity and dystonia. Their findings suggest a role for SERAC1 in phosphatidylglycerol remodeling and intracellular cholesterol trafficking.
- Saskia B Wortmann
- Frédéric M Vaz
- Arjan P M de Brouwer
