Publication
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Christopher J. Record, Antoinette O'Connor, Nienke E. Verbeek, Wouter van Rheenen, Eleni Zamba Papanicolaou, Stojan Peric, Peter C. Ligthart, Mariola Skorupinska, Ellen van Binsbergen, Philippe M. Campeau, Vukan Ivanovic, Brian Hennigan, John C. McHugh, Julian C. Blake, Yoshiko Murakami, Matilde Laura, Sinéad M. Murphy, Mary M. Reilly
Annals of Neurology, October 2024, Wiley
DOI: 10.1002/ana.27113