Literature DB >> 457125

Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?

H H Ropers, H B Szliwowski.   

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.

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Year:  1979        PMID: 457125     DOI: 10.1007/bf00273282

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  6 in total

1.  Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Authors:  W Lenz
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  [Clinical features of hereditary transient paralysis; periodic adynamia and periodic paralysis].

Authors:  U SAGILD; H F HELWEG-LARSEN
Journal:  Nord Med       Date:  1955-06-23

Review 3.  Mutation in eukaryotes.

Authors:  C Auerbach; B J Kilbey
Journal:  Annu Rev Genet       Date:  1971       Impact factor: 16.830

4.  Letter: Heterogenic monozygocity: evidence for the transmission of half chromatid mutations in humans?

Authors:  J M Cantu
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

5.  X-linked mental retardation: transmission of the trait by an apparently unaffected male.

Authors:  G Wolff; H Hameister; H H Ropers
Journal:  Am J Med Genet       Date:  1978

6.  Hereditary transient muscular paralysis in Denmark; genetic aspects of family periodic paralysis and family periodic adynamia.

Authors:  H F HELWEG-LARSEN; M HAUGE; U SAGILD
Journal:  Acta Genet Stat Med       Date:  1955
  6 in total
  2 in total

1.  Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Authors:  R H Boerman; R A Ophoff; T P Links; R van Eijk; L A Sandkuijl; A Elbaz; J E Vale-Santos; A R Wintzen; J C van Deutekom; D E Isles
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

2.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Authors:  D H Cohn; B J Starman; B Blumberg; P H Byers
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

  2 in total

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