Congenital Motor Nystagmus Linked to Xq26-q27
نویسندگان
چکیده
منابع مشابه
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped ...
متن کاملFRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
PURPOSE To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families. METHODS Genomic DNA was prepared from peripheral blood leukocytes. Cycle sequencing was used to detect the sequence variation of the FERM domain containing 7 (FRMD7) gene, where mutations have been identified recently to associate with XL-CMN. RESULTS Sequencing of the coding and the adja...
متن کاملNovel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
PURPOSE Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN. METHODS Clinical data and genomic DNA of three Chinese CMN famili...
متن کاملCongenital nystagmus
Key-words Disease name Definition/Diagnosis criteria Differential diagnosis Pathophysiology Clinical description Paraclinic testing and diagnosis Frequency Treatment Reference
متن کاملClinical and ocular motor analysis of congenital nystagmus in infancy.
PURPOSE The purpose of this study was to identify the clinical and ocular motility characteristics of congenital nystagmus and to establish the range of waveforms present in infancy. BACKGROUND The clinical condition of congenital nystagmus usually begins in infancy and may or may not be associated with visual sensory system abnormalities. Little is known about its specific waveforms in infan...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302244