Ontology highlight
ABSTRACT:
SUBMITTER: Ramser J
PROVIDER: S-EPMC2253959 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Ramser Juliane J Ahearn Mary Ellen ME Lenski Claus C Yariz Kemal O KO Hellebrand Heide H von Rhein Michael M Clark Robin D RD Schmutzler Rita K RK Lichtner Peter P Hoffman Eric P EP Meindl Alfons A Baumbach-Reardon Lisa L
American journal of human genetics 20080101 1
X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death. To identify the XL-SMA disease gene, we performed large-scale mutation analysis in genes located between markers DXS8080 and DXS7132 (Xp11.3-Xq11.1). This resulted in detection of three rare novel variants in exon 15 of UBE1 that segregate with ...[more]