Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.
Seong E, et al.
Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30.
Ann Neurol. 2018.
PMID: 29604224
Free PMC article.
Linkage to chromosome 1p36 was found in this family with a logarithm of odds score of 3.1. The phenotypic spectrum in our 12 patients was broad. ...Disease onset ranged from infancy to 39 years, and symptoms were slowly progressive and included loss of independent ambulati …
Linkage to chromosome 1p36 was found in this family with a logarithm of odds score of 3.1. The phenotypic spectrum in our 12 patients …