A man with a GNAL mutation (individual L4486 with a p.Gly213Ser mutation) had severe cervical dystonia (retrocollis, laterocollis to the left, and torticollis to the right), slight dystonic head tremor, and mild involvement of the oromandibular and ocular regions (slight involuntary muscle contractions). Proximal brachial dystonia with obvious elevation of the left shoulder was also observed.
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