Seyed Ahmad Mohammadi

Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights

The findings highlight the importance of considering GAMT deficiency among the potentially treatable causes of unexplained intellectual disability, particularly when neurodevelopmental manifestations are accompanied by biochemical evidence of disturbed creatine metabolism.

Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy