Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
PIGG基因隐性变异导致运动神经病,伴有可变传导阻滞、儿童震颤和热性惊厥:扩展表型
期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.27113
Record, Christopher J; O'Connor, Antoinette; Verbeek, Nienke E; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M; Ivanovic, Vukan; Hennigan, Brian; McHugh, John C; Blake, Julian C; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinéad M; Reilly, Mary M