| Literature DB >> 457125 |
Abstract
A pedigree is described that includes three cases of periodic hypokalemic paralysis. Apparently, the disease has arisen by de novo mutation in a father of two affected daughters, who, however, is not affected himself. This is unexpected, since in males the disorder is generally inherited as a fully dominant trait. Therefore we propose that these findings result from an early somatic or a half-chromatid mutation.Entities:
Mesh:
Year: 1979 PMID: 457125 DOI: 10.1007/bf00273282
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132