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PMID: 457125 Published · ppublish English Case Reports Journal Article

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

Human genetics ·Vol. 48 ·No. 1 ·1979-04-17 ·Pages 113-6

Ropers HH, Szliwowski HB

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.

MeSH Terms
Adolescent Adult Aged Chromatids Female Genes, Dominant Humans Male Mosaicism Mutation Paralyses, Familial Periodic/genetics Pedigree
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Ropers H H
Szliwowski H B
References (6)
6 references, click to expand
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  2. Mutation in eukaryotes.
    Annu Rev Genet. 1971;5:163-218 PMID: 16097655
  3. [Clinical features of hereditary transient paralysis; periodic adynamia and periodic paralysis].
    Nord Med. 1955 Jun 23;53(25):981-5 PMID: 14394465
  4. X-linked mental retardation: transmission of the trait by an apparently unaffected male.
    Am J Med Genet. 1978;2(3):217-24 PMID: 263439
  5. Hereditary transient muscular paralysis in Denmark; genetic aspects of family periodic paralysis and family periodic adynamia.
    Acta Genet Stat Med. 1955;5(3):263-81 PMID: 13326197
  6. Letter: Heterogenic monozygocity: evidence for the transmission of half chromatid mutations in humans?
    Am J Hum Genet. 1976 Mar;28(2):190-1 PMID: 1266849
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1979-04-17
Pages
113-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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