A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.

Autor: Nan, Haitian1 (AUTHOR), Mizuno, Tomoko2 (AUTHOR), Arisaka, Atsuko3 (AUTHOR), Sei, Kenshi3 (AUTHOR), Takiyama, Yoshihisa1 (AUTHOR) ytakiyama@yamanashi.ac.jp
Zdroj: Neurological Sciences. Mar2022, Vol. 43 Issue 3, p2123-2126. 4p. 1 Diagram.
Databáze: Academic Search Ultimate
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