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Parkinsonism & related disorders, Vol. 62, Pages 246-247, 2019
PMID: 30660597
Mutations in GNAL have been associated with cranio-cervical dystonia (DYT-GNAL) [ [1] ]. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles and less commonly the trunk, arm and lower limbs. The clinical phenotype in GNAL-related dystonia appears to be similar to that caused by mutations in THAP1 [ [2] ]
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