Thr1313Met Mutation in Skeletal Muscle Sodium Channels in a Japanese Family with Paramyotonia Congenita

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概要

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• 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.(Internal Medicine 42: 856-861, 2003)

• 社団法人 日本内科学会の論文
• 2003-09-01

著者

• Mitarai Tetsuya

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Mitarai Tetsuya

  Fourth Department Of Internal Medicine Department Of Pathology Saitama Medicine Center Saitama Medic

• KINOSHITA Masanobu

  Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School

• NAGANO Tadasuke

  Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School

• HIROSE Kazuhiko

  Ueno Hospital Internal Medicine

• Nakamura Satoko

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Matsuda Akihiko

  The Fourth Department Of Internal Medicine Saitama Medical Center Saitaina Medical School

• Sasaki Ryogen

  Department Of Neurology Mie University School Of Medicine

• Ohnuki Manabu

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Hasegawa Hajime

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Takahama Misato

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Nagano Tadasuke

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

• Kinoshita Masanobu

  Fourth Department Of Internal Medicine Saitama Medical Center Saitama Medical School

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