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Abstract Objective To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene. Methods The methods included clinical case description, neurophysiologic assessment, brain MRI, and whole-exome sequencing (WES). Results The child presented soon after birth with nystagmus and hyperkinetic movement disorder.
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