The Experts below are selected from a list of 72 Experts worldwide ranked by ideXlab platform

G C Ebers - One of the best experts on this subject based on the ideXlab platform.

  • linkage of Thomsen Disease to the t cell receptor beta tcrb locus on chromosome 7q35
    American Journal of Human Genetics, 1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, G C Ebers
    Abstract:

    The chromosomal localization of the gene for Thomsen Disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen Disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen Disease locus. Linkage analysis of Thomsen Disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen Disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). The authors conclude that the Thomsen Disease locus is linked to the TCRB locus in these families. 30 refs., 6 figs., 1 tab.

J A Abdalla - One of the best experts on this subject based on the ideXlab platform.

  • linkage of Thomsen Disease to the t cell receptor beta tcrb locus on chromosome 7q35
    American Journal of Human Genetics, 1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, G C Ebers
    Abstract:

    The chromosomal localization of the gene for Thomsen Disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen Disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen Disease locus. Linkage analysis of Thomsen Disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen Disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). The authors conclude that the Thomsen Disease locus is linked to the TCRB locus in these families. 30 refs., 6 figs., 1 tab.

  • Linkage ofThomsenDisease totheT-Cell-Receptor Beta (TCRB)Locuson Chromosome7q35
    1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, C. Ebers
    Abstract:

    Summary Thechromosomal localization ofthe gene forThomsen Disease, an autosomaldominant formofmyotonia congenita, isunknown. Electrophysiologic datainThomsen Disease point todefects inmuscle-membrane ion-channel function. A mouse modelofmyotonia congenita appears toresult fromtransposoninactivation ofa muscle chloride-channel genewhich maps toa region ofmouse chromosome 6.Thelinkage group containing this geneincludes several loci whichhavehumanhomologues on humanchromosome 7q31-35 (synteny), andthis isa candidate region fortheThomsen Disease locus. Linkage analysis ofThomsenDisease totheT-cell-receptor beta(TCRB)locus at7q35was carried outinfourpedigrees (25affected and23 unaffected individuals) byusing a PCR-based dinucleotide repeatpolymorphism intheTCRBgene.Twopoint linkage analysis between Thomsen Disease andTCRBshowed amaximumcumulative lod scoreof3.963 ata recombination fraction of.10(1-lod supportinterval .048-.275). We conclude that theThomsen Disease locus islinked totheTCRBlocus inthese families.

Kashif Ahmad - One of the best experts on this subject based on the ideXlab platform.

  • a case of Thomsen Disease in pregnancy case report
    Open Journal of Obstetrics and Gynecology, 2019
    Co-Authors: Ayesha Anwar, Adjoa Kyeisarpong, John Obodozie, S W Lindow, Ahmed Sherif, Kashif Ahmad
    Abstract:

    Thomsen Disease is a rare genetic disorder which affects the cell membrane of skeletal muscles causing hyper excitability and periods of prolonged muscle contraction. This prolonged muscle contractions can be aggravated during pregnancy and can interfere with normal labour and delivery. In this case report, we describe the case of a gravid patient in her first pregnancy with Thomsen Disease and how to minimise the risk. Also, we illustrate the importance of involving multidisciplinary team in the management of such case to achieve the best fetomaternal outcome.

F C Cornelis - One of the best experts on this subject based on the ideXlab platform.

  • linkage of Thomsen Disease to the t cell receptor beta tcrb locus on chromosome 7q35
    American Journal of Human Genetics, 1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, G C Ebers
    Abstract:

    The chromosomal localization of the gene for Thomsen Disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen Disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen Disease locus. Linkage analysis of Thomsen Disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen Disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). The authors conclude that the Thomsen Disease locus is linked to the TCRB locus in these families. 30 refs., 6 figs., 1 tab.

  • Linkage ofThomsenDisease totheT-Cell-Receptor Beta (TCRB)Locuson Chromosome7q35
    1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, C. Ebers
    Abstract:

    Summary Thechromosomal localization ofthe gene forThomsen Disease, an autosomaldominant formofmyotonia congenita, isunknown. Electrophysiologic datainThomsen Disease point todefects inmuscle-membrane ion-channel function. A mouse modelofmyotonia congenita appears toresult fromtransposoninactivation ofa muscle chloride-channel genewhich maps toa region ofmouse chromosome 6.Thelinkage group containing this geneincludes several loci whichhavehumanhomologues on humanchromosome 7q31-35 (synteny), andthis isa candidate region fortheThomsen Disease locus. Linkage analysis ofThomsenDisease totheT-cell-receptor beta(TCRB)locus at7q35was carried outinfourpedigrees (25affected and23 unaffected individuals) byusing a PCR-based dinucleotide repeatpolymorphism intheTCRBgene.Twopoint linkage analysis between Thomsen Disease andTCRBshowed amaximumcumulative lod scoreof3.963 ata recombination fraction of.10(1-lod supportinterval .048-.275). We conclude that theThomsen Disease locus islinked totheTCRBlocus inthese families.

E G Murphy - One of the best experts on this subject based on the ideXlab platform.

  • linkage of Thomsen Disease to the t cell receptor beta tcrb locus on chromosome 7q35
    American Journal of Human Genetics, 1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, G C Ebers
    Abstract:

    The chromosomal localization of the gene for Thomsen Disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen Disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen Disease locus. Linkage analysis of Thomsen Disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen Disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). The authors conclude that the Thomsen Disease locus is linked to the TCRB locus in these families. 30 refs., 6 figs., 1 tab.

  • Linkage ofThomsenDisease totheT-Cell-Receptor Beta (TCRB)Locuson Chromosome7q35
    1992
    Co-Authors: J A Abdalla, W L Casley, H K Cousin, Arthur J Hudson, E G Murphy, F C Cornelis, L Hashimoto, C. Ebers
    Abstract:

    Summary Thechromosomal localization ofthe gene forThomsen Disease, an autosomaldominant formofmyotonia congenita, isunknown. Electrophysiologic datainThomsen Disease point todefects inmuscle-membrane ion-channel function. A mouse modelofmyotonia congenita appears toresult fromtransposoninactivation ofa muscle chloride-channel genewhich maps toa region ofmouse chromosome 6.Thelinkage group containing this geneincludes several loci whichhavehumanhomologues on humanchromosome 7q31-35 (synteny), andthis isa candidate region fortheThomsen Disease locus. Linkage analysis ofThomsenDisease totheT-cell-receptor beta(TCRB)locus at7q35was carried outinfourpedigrees (25affected and23 unaffected individuals) byusing a PCR-based dinucleotide repeatpolymorphism intheTCRBgene.Twopoint linkage analysis between Thomsen Disease andTCRBshowed amaximumcumulative lod scoreof3.963 ata recombination fraction of.10(1-lod supportinterval .048-.275). We conclude that theThomsen Disease locus islinked totheTCRBlocus inthese families.