De novo p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report

Author:

Bouhouche Ahmed,Tamaoui Leila,Birouk Nazha

Publisher

Pan African Medical Journal

Reference9 articles.

1. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H;Adv Neurol,1976

2. Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders;Lee WW, Jeon BS;Curr Neurol Neurosci Rep,2014

3. Combined dystonias: clinical and genetic updates;Weissbach A, Saranza G, Domingo A;J Neural Transm (Vienna),2021

4. Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa;Steinberger D, Korinthenberg R, Topka H, Berghäuser M, Wedde R, Müller U;Neurology,2000

5. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia;Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B;Brain,2009

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