Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome.

ABSTRACT: An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.

SUBMITTER: Berger SI 

PROVIDER: S-EPMC8840640 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature