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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 haveExpand
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The skeletal muscle chloride channel in dominant and recessive human myotonia.
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 ofExpand
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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 theExpand
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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
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 ofExpand
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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 theExpand
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Multimeric structure of ClC‐1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
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 expressedExpand
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A polymorphic microsatellite that mediates induction of PIG3 by p53
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 andExpand
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Diagnostic criteria for facioscapulohumeral muscular dystrophy
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Genetic risks for children of women with myotonic dystrophy.
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 suchExpand
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Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
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, andExpand
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