兄弟姐妹中 SCARB2 突变伴肾衰竭的行动肌阵挛症的表型变异。
关键词: SCARB2 action myoclonus progressive myoclonic epilepsy
Mesh : Humans Siblings Mutation Lysosomal Membrane Proteins / genetics Receptors, Scavenger / genetics Renal Insufficiency / genetics Male Phenotype Myoclonus / genetics physiopathology Female