Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM.
Record CJ, et al. Among authors: reilly mm.
Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print.
Ann Neurol. 2024.
PMID: 39444079