Literature DB >> 1318804

Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle.

T Fagerlund1, G Islander, E Ranklev, I Harbitz, J G Hauge, E Møkleby, K Berg.   

Abstract

Absolute linkage between the gene, on chromosome 19, for the calcium release channel (CRC) of the sarcoplasmic reticulum in skeletal muscle and malignant hyperthermia (MH) has been reported by other workers. In the present study of three Swedish Families informative with respect to this linkage relationship, definite recombinants were found in two families. We conclude that mutations in other genes than the CRC gene can cause the clinical picture of MH. Accordingly, MH appears to be genetically heterogeneous.

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Year:  1992        PMID： 1318804

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

Authors:  R Robinson; J L Curran; W J Hall; P J Halsall; P M Hopkins; A F Markham; A D Stewart; S P West; F R Ellis
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

2.  Refined genetic localization for central core disease.

Authors:  J C Mulley; H M Kozman; H A Phillips; A K Gedeon; J A McCure; D E Iles; R G Gregg; K Hogan; F J Couch; D H MacLennan
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

3.  Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.

Authors:  T Deufel; R Sudbrak; Y Feist; B Rübsam; I Du Chesne; K L Schäfer; N Roewer; T Grimm; F Lehmann-Horn; E J Hartung
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

Review 4.  The genetics of malignant hyperthermia.

Authors:  S P Ball; K J Johnson
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

5.  Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

Authors:  R Sudbrak; V Procaccio; M Klausnitzer; J L Curran; K Monsieurs; C van Broeckhoven; R Ellis; L Heyetens; E J Hartung; G Kozak-Ribbens
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response.

Authors:  M Steinfath; S Singh; J Scholz; K Becker; C Lenzen; F Wappler; A Köchling; N Roewer; J Schulte am Esch
Journal:  J Mol Med (Berl)       Date:  1995-01       Impact factor: 4.599
  6 in total

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