1.
Mov Disord
; 18(10): 1198-200, 2003 Oct.
Artículo
en Inglés
| MEDLINE
| ID: mdl-14534929
RESUMEN
A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder.