| | |  | | | | Record from Web of Science® | | | | | | |
| THE SKELETAL-MUSCLE CHLORIDE CHANNEL IN DOMINANT AND RECESSIVE HUMAN MYOTONIA |
|
|
| Author(s): KOCH MC, STEINMEYER K, LORENZ C, RICKER K, WOLF F, OTTO M, ZOLL B, LEHMANNHORN F, GRZESCHIK KH, JENTSCH TJ |
| Source: SCIENCE Volume: 257 Issue: 5071 Pages: 797-800 Published: AUG 7 1992 |
| Times Cited: 445 References: 25 |
| Abstract: Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (CLC-1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor-beta (TCRB) locus. Tight linkage of these two loci to GM and MC was found in German families. An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8. This suggests that different mutations in CLC-1 may cause dominant or recessive myotonia. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV HAMBURG, CTR MOLEC NEUROBIOL, MARTINISTR 52, W-2000 HAMBURG 20, GERMANY
2. UNIV MARBURG, HUMAN GENET MED CTR, W-3550 MARBURG, GERMANY
3. UNIV WURZBURG, W-8700 WURZBURG, GERMANY
4. UNIV GOTTINGEN, INST HUMAN GENET, W-3400 GOTTINGEN, GERMANY
5. TECH UNIV MUNICH, W-8000 MUNICH 2, GERMANY |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: JG851 |
| ISSN: 0036-8075 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |