Search

Your search keyword '"Yoshikane, Ayami"' showing total 1 results
Start Over Author "Yoshikane, Ayami" Topic genes
1 results on '"Yoshikane, Ayami"'

1. A pediatric case of Andersen–Tawil syndrome with slowly progressive myopathy.

Author

Furukawa, Gen, Yoshikane, Ayami, Ishihara, Naoko, Noda, Seiya, Katsuno, Masahisa, and Yoshikawa, Tetsushi

Subjects
*PHYSICAL diagnosis, *ACETAZOLAMIDE, *MUSCLE diseases, *TREATMENT effectiveness, *MAGNETIC resonance imaging, *CLINICAL pathology, *GENES, *ANDERSEN syndrome, *NEEDLE biopsy, *PARALYSIS, *GENETIC testing, *EVALUATION
Abstract

The article focuses on the utility of genetic testing for diagnosing Andersen–Tawil syndrome (ATS) in a pediatric patient with periodic paralysis and myopathy. Topics include the clinical features of ATS such as ventricular arrhythmia and skeletal abnormalities, the role of genetic analysis in confirming diagnosis, and the effectiveness of acetazolamide in managing myasthenic symptoms and periodic paralysis.

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results