A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E.
Misceo D, et al.
Brain. 2023 Aug 1;146(8):3513-3527. doi: 10.1093/brain/awad086.
Brain. 2023.
PMID: 36917474
Free PMC article.