Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.

Authors :: Ros-Arlanzón P
Serrano-Serrano B
Aledo-Sala C
Guevara-Dalrymple N
Martí-Martínez S
Source :: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Aug; Vol. 11 (8), pp. 1041-1043. Date of Electronic Publication: 2024 May 31.
Publication Year :: 2024

Subjects :: Humans
Male
Female
Apraxias genetics
Apraxias physiopathology
Apraxias congenital
Cogan Syndrome genetics
Adult
Pedigree
Spinocerebellar Ataxias genetics
Spinocerebellar Ataxias congenital
Spinocerebellar Ataxias pathology
Mutation
Multifunctional Enzymes genetics
RNA Helicases genetics
DNA Helicases genetics

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