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Novel GNAL mutation in an Indian patient with generalized dystonia and response to deep brain stimulation

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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  https://www.ncbi.nlm.nih.gov/pubmed/30660597

 

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