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UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.