A new mutation in the skeletal @entity8452 receptor gene ( @entity13868 ) is potentially causative of XXXX , @entity12740 , and severe skeletal malformation.

@entity1 @entity2122 @entity7674 @entity70886 @entity8452 @entity13868 @entity8176 @entity28011 @entity12740 @entity590
@entity590 susceptibility ( @entity8176 ) and @entity12740 ( @entity12740 ) have been shown to result from missense mutations in the @entity8452 receptor gene of the skeletal muscle ( @entity13868 ). A 15-year-old @entity1 who had @entity28011 ( @entity28011 ) developed an @entity8176 crisis during general anesthesia. The @entity1 was characterized phenotypically by block vertebrae, vertebral fusion, short neck and thorax, fused ribs, @entity2122 , @entity7674 , and a diaphragmatic defect closed surgically in early infancy. The diagnosis @entity8176 ( @entity8176 ) was confirmed by the in vitro contracture test (IVCT) on a muscle biopsy. Surprisingly, the histopathological investigation revealed the presence of @entity12740 too. Molecular genetic investigation of the @entity13868 gene was performed to search for known @entity8176 -related mutations. Cluster regions of the @entity13868 gene, in which mutations have already been found, were examined by direct automated sequencing. In addition to the diagnosis @entity8176 and @entity12740 we were able to identify a novel @entity13868 mutation in exon 46: 7358ATC > ACC, resulting in an @entity70886 substitution. This mutation was also present in the mother, in whom @entity8176 disposition and @entity12740 were determined by muscle investigations. We suggest that the newly identified @entity13868 mutation is closely associated with @entity8176 and @entity12740 . A probable causative role of the @entity13868 gene in @entity28011 @entity1 should be assessed by further genetic investigations.
