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DD: Writing original draft, Formal Analysis

All individuals with AIS have a 46,XY karyotype

Mechanistically, impaired FR-mediated folate uptake disrupts C1 metabolism, reducing methylation capacity and altering the expression of genes critical for synaptic formation, neuronal excitability, and neurotransmitter metabolism

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Neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder characterized by a range of symptoms including muscle weakness, sensory neuropathy, ataxia, seizures, dementia, retinitis pigmentosa, optic atrophy, and developmental delay