A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature
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DOI: 10.1055/s-0042-1760366
Abstract: Abstract Background Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder with early onset characterized by microcephaly, axial hypotonia, epilepsy, spasticity, and developmental delay. Methods Clinical exome sequence was… read more here.
Keywords: aimp1 gene; splice site; splice; hypomyelinating leukodystrophy ... See more keywords