Publications by authors named "V D Winston"
Introduction: Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear.
Methods: In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene.
Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNa1.4 domain I mutation linked to this disease.
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- Most tailed bacteriophages have linear double-stranded DNA genomes, and understanding their full genome sequences, including the ends, is crucial for characterizing them.
- Researchers sequenced 48 Bacillus cereus phages and found that the assembled genomes often formed circular structures, but existing software struggled to accurately report the genome configurations.
- They developed a new method called Terminus to better identify the genome ends using sequencing data, which enhances the understanding of phage packaging mechanisms and improves genome annotations.
In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy with latent myotonia in another.
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