id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ut2j275m3jdrhec2xkoiiser5u	Arnaud Blanchard	Singular DYT6 phenotypes in association with new THAP1 frameshift mutations	2011.0	4	.pdf	application/pdf	2416	265	62	Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with early-age onset (median, 13 years) and slight female predominance.1 The upper limb is a common site of onset, with patients with primary non-DYT1 dystonia. 1. Family tree demonstrating index cases with SGCE deletion (III:1 and III:2) who had cognitive impairment and mild myoclonus dystonia (black the clinical phenotype associated with THAP1 mutations, the disease at an early age, thus mimicking DYT1 dystonia. The DYT6 phenotype overlaps with that of other forms of primary early-onset dystonia, Good candidates for THAP1 screening might be patients with onset in childhood or during adolescence who present cervicocranial and upper limb involvement Neurologie, Dijon, France; 9CHU de Nice, Service Mutations in THAP1 (DYT6) in early-onset patients with early-onset dystonia. (DYT6) are an additional cause of early-onset dystonia.	./cache/work_ut2j275m3jdrhec2xkoiiser5u.pdf	./txt/work_ut2j275m3jdrhec2xkoiiser5u.txt