PubMed 14518676

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1.4

Title: Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

Authors: Masanobu Kinoshita, Ryogen Sasaki, Tadasuke Nagano, Akihiko Matsuda, Satoko Nakamura, Misato Takahama, Manabu Ohnuki, Hajime Hasegawa, Tetsuya Mitarai, Kazuhiko Hirose

Journal, date & volume: Intern. Med., 2003 Sep , 42, 856-61

PubMed link:

A 37-year-old Japanese woman was referred from another clinic to confirm the diagnosis of myotonia congenita. She had experienced cold-induced myotonia and muscle stiffness from early childhood. Of her three children, her elder son and her daughter have clinical features similar to hers. They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms. DNA analyses of the SCN4A gene showed a C to T transition at nucleotide position 3938 in exon 22 of SCN4A (Thr1313Met) in all three affected family members, but not in the unaffected son. Paramyotonia congenita, the prevalence of which is very low in Japan, was diagnosed based on their clinical features and DNA analysis results.