Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
نویسندگان
چکیده
منابع مشابه
Paroxysmal dystonic choreoathetosis
A 30-year-old man with mild learning disability (IQ:72) and cerebral palsy with mild generalized choreoathetosis was referred with paroxysmal motor disorder and episodic depressive mood disorder. Aged 11 months, he had developed episodes of alternating flaccid hemiparesis followed by episodes when he was unable to move or talk but remaining conscious lasting from several minutes to longer. Epis...
متن کاملMyofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.
BACKGROUND Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that occur spontaneously while at rest and following caffeine or alcohol consumption. Previously, we and others identified a locus for autosomal dominant PDC on chromosome 2q33-2q35. OBJECTIVE To identify the PDC gene. DESIGN Analysis of PDC positional candidate genes by exon sequencing...
متن کاملLocalisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.
The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocrine tumours (39 parathyroid adenomas, 40 anterior pituitary adenomas, seven pan...
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The detection of loss of heterozygosity, indicative of the presence of a tumor suppressor gene, has been reported to occur frequently on chromosome 22q in human ovarian cancer. In this study, 110 sporadic ovarian tumors were analyzed using 8 polymorphic loci to define a minimum region of loss. Fifty-eight (53%) tumors showed loss of heterozygosity, and of these 6 exhibited partial loss, enablin...
متن کاملFamilial dystonic choreoathetosis with myokymia; a sleep responsive disorder.
A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic cho...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1998
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s004390050659