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Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2

Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of trials with dopaminergic drugs and the condition o...

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Autori principali: Sakari Kaasalainen, Harri Arikka, Mika H. Martikainen, Valtteri Kaasinen
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2024-01-01
Serie:Case Reports in Neurological Medicine
Accesso online:http://dx.doi.org/10.1155/2024/4767647
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