Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
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 inact...
| Main Authors: | , , , , , , , |
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| פורמט: | Journal article |
| שפה: | English |
| יצא לאור: |
1992
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