Publication | Open Access

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

Mendelian DisorderGenetic DisorderMedicineGeneticsMissense MutationAcetyl-coa TransporterMolecular GeneticsAutosomal-dominant Spastic ParaplegiaSystems BiologyNeuromuscular PathologyNeuropathology