Title : Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

Pub. Date : 2020 May

PMID : 32278297






1 Functional Relationships(s)
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1 METHODS: Clinical trajectories of four patients from three families with pathogenic variants in GCH1 are described, illustrated by videos of the motor phenotype before and during treatment with levodopa. Levodopa GTP cyclohydrolase 1 Homo sapiens