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Myotonic dystrophy type 2
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors have… Expand
The skeletal muscle chloride channel in dominant and recessive human myotonia.
- M. Koch, K. Steinmeyer, +7 authors T. Jentsch
- Biology, Medicine
- Science
- 7 August 1992
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… Expand
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.
BACKGROUND
Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the… Expand
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
- C. Meyer-Kleine, K. Steinmeyer, K. Ricker, T. Jentsch, M. Koch
- Biology, Medicine
- American journal of human genetics
- 1 December 1995
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of… Expand
Proximal myotonic myopathy
We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the… Expand
Multimeric structure of ClC‐1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
- K. Steinmeyer, C. Lorenz, M. Pusch, M. Koch, T. Jentsch
- Biology, Medicine
- The EMBO journal
- 1 February 1994
Voltage‐gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably transepithelial transport. ClC channels can be functionally expressed… Expand
A polymorphic microsatellite that mediates induction of PIG3 by p53
- A. Contente, A. Dittmer, M. Koch, J. Roth, M. Dobbelstein
- Biology, Medicine
- Nature Genetics
- 1 March 2002
The gene PIG3 is induced by the tumor suppressor p53 but not by p53 mutants unable to induce apoptosis, suggesting its involvement in p53-mediated cell death. Here we show that p53 directly binds and… Expand
Diagnostic criteria for facioscapulohumeral muscular dystrophy
- G. Padberg, P. Lunt, M. Koch, M. Fardeau
- Medicine
- Neuromuscular Disorders
- 31 December 1991
Genetic risks for children of women with myotonic dystrophy.
- M. Koch, T. Grimm, H. Harley, P. Harper
- Biology, Medicine
- American journal of human genetics
- 1 June 1991
In genetic counseling, the recommended risk estimate that any heterozygous woman with myotonic dystrophy (DM) will have a congenitally affected child is 3%-9%. However, after already having had such… Expand
Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
- B. Richter, K. Stegmann, Britta Röper, I. Böddeker, E. T. Ngo, M. Koch
- Biology, Medicine
- Journal of Human Genetics
- 1 March 2001
AbstractNeural tube defects (NTD) are likely to result from an interaction of several genes and environmental factors. Because periconceptional folate intake reduces the NTD risk in the fetus, and… Expand
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