| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C Fahlk. Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations. Kidney international. vol 57. issue 3. 2000-05-18. PMID:10720929. |
mutations in clcn1, the gene encoding this channel, cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (becker) and dominant myotonia (thomsen). |
2000-05-18 |
2023-08-12 |
human |
| V Mailänder, R Heine, F Deymeer, F Lehmann-Hor. Novel muscle chloride channel mutations and their effects on heterozygous carriers. American journal of human genetics. vol 58. issue 2. 1996-03-01. PMID:8571958. |
mutations within clcn1, the gene encoding the major skeletal muscle chloride channel, cause either dominant thomsen disease or recessive becker-type myotonia, which are sometimes difficult to discriminate, because of reduced penetrance or lower clinical expressivity in females. |
1996-03-01 |
2023-08-12 |
Not clear |
| C Meyer-Kleine, K Steinmeyer, K Ricker, T J Jentsch, M C Koc. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. American journal of human genetics. vol 57. issue 6. 1996-02-01. PMID:8533761. |
spectrum of mutations in the major human skeletal muscle chloride channel gene (clcn1) leading to myotonia. |
1996-02-01 |
2023-08-12 |
human |
| C Meyer-Kleine, K Steinmeyer, K Ricker, T J Jentsch, M C Koc. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. American journal of human genetics. vol 57. issue 6. 1996-02-01. PMID:8533761. |
we have systematically screened the open reading frame of the clcn1 gene for mutations by ssc analysis (ssca) in a panel of 24 families and 17 single unrelated patients with human myotonia. |
1996-02-01 |
2023-08-12 |
human |
| F Lehmann-Horn, V Mailänder, R Heine, A L Georg. Myotonia levior is a chloride channel disorder. Human molecular genetics. vol 4. issue 8. 1995-12-15. PMID:7581380. |
we report a clcn1 gln-552-arg substitution for a family with dominant inheritance previously diagnosed to have myotonia levior. |
1995-12-15 |
2023-08-12 |
Not clear |
| F Lehmann-Horn, V Mailänder, R Heine, A L Georg. Myotonia levior is a chloride channel disorder. Human molecular genetics. vol 4. issue 8. 1995-12-15. PMID:7581380. |
in another family previously diagnosed as having thomsen's disease, we unexpectedly found a clcn1 14 bp deletion known to cause recessive myotonia, and a rare trp-118-gly polymorphism. |
1995-12-15 |
2023-08-12 |
Not clear |
| C Meyer-Kleine, K Ricker, M Otto, M C Koc. A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker). Human molecular genetics. vol 3. issue 6. 1994-11-30. PMID:7951215. |
a recurrent 14 bp deletion in the clcn1 gene associated with generalized myotonia (becker). |
1994-11-30 |
2023-08-12 |
Not clear |
| C Lorenz, C Meyer-Kleine, K Steinmeyer, M C Koch, T J Jentsc. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Human molecular genetics. vol 3. issue 6. 1994-11-30. PMID:7951242. |
mutations in the gene encoding this chloride channel (clcn1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (becker's disease, gm) and autosomal dominant myotonia congenita (thomsen's disease, mc). |
1994-11-30 |
2023-08-12 |
human |