- Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern ScandinaviaC Sun
Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
Eur J Hum Genet 9:903-9. 2001..In two probands, three mutations cosegregated with myotonia. No CLCN1 mutations were identified in two families. Our data support the presence of genetic heterogeneity and additional modifying factors in myotonia congenita...
- Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) geneC Sun
Department of Clinical Medicine Medical Genetics, Faculty of Health Sciences, University of Tromsø, Tromsø, Norway
Clin Genet 80:574-80. 2011..Heterozygosity for p.Phe413Cys seems to exaggerate the severity of myotonia and thereby, to some degree, contributing to the pronounced variability in the myotonic phenotype in this family...
- An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9YC Sun
Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
Nat Genet 23:429-32. 1999..We also identified a single-gene deletion associated with spermatogenic failure, again involving USP9Y, by re-analysing a published study...