Literature DB >> 1330884

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.

W L Casley1, M Allon, H K Cousin, S S Ting, M A Crackower, L Hashimoto, F Cornélis, J S Beckmann, A J Hudson, G C Ebers.   

Abstract

Hypokalemic periodic paralysis (HOKPP) is an autosomal dominant neuromuscular disorder characterized by flaccid paralysis accompanied by lowered serum potassium levels. We have tested polymorphic markers linked to the adult skeletal muscle sodium channel (SCN4A) locus at 17q23-q25, the T-cell receptor beta (TCRB) locus at 7q35, and the H-Ras cellular proton-cogene locus (HRAS) at 11p15.5 for linkage with the affected phenotype in a single multigenerational pedigree. No evidence for genetic linkage to HOKPP was found at any of the candidate loci.

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Year:  1992        PMID: 1330884     DOI: 10.1016/s0888-7543(05)80249-6

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

1.  Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

Authors:  V Sansone; G Rotondo; L J Ptacek; G Meola
Journal:  Ital J Neurol Sci       Date:  1994-12

2.  Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

Authors:  E Plassart; A Elbaz; J V Santos; J Reboul; P Lapie; D Chauveau; K Jurkat-Rott; J Guimaraes; J M Saudubray; J Weissenbach
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

  2 in total

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