A5092771684- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
Tampere University
2023-2025
Tampere University Hospital
2023-2025
University of Helsinki
2023
University of Turku
2023
Turku University Hospital
2023
Kuopio University Hospital
2023
ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations. Genetic studies were performed with targeted sequencing all known myopathy genes. Functional changes resulting these studied HEK293T cells, by using a whole‐cell patch clamp. Results Five identified: c.662 T > C p.(F221S),...
This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in Finnish family.
Abstract Objectives This study aimed to determine the usefulness of electrophysiological exercise tests. The significance slightly abnormal tests was also examined. Methods We identified all patients who had undergone testing between February 2007 June 2022 in Tampere University Hospital, Finland. Their medical records after diagnostic workup and test reports were reviewed. A binary logistic regression performed evaluate association positive result short test, long or with cooling...