MERRF Syndrome Presenting with Multiple Symmetric Lipomatosis in a Japanese Patient

• Kobayashi Junpei

  Department of Neurology, Tokyo Metropolitan Neurological Hospital

• Nagao Masahiro

  Department of Neurology, Tokyo Metropolitan Neurological Hospital

• Miyamoto Kazuhito

  Department of Neurology, Tokyo Metropolitan Neurological Hospital

• Matsubara Shiro

  Department of Neurology, Tokyo Metropolitan Neurological Hospital

抄録

Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuhara's disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). MSL associated with MERRF has been reported mainly in Caucasians; such cases have not been reported in Japanese patients. We report the case of a 59-year-old Japanese woman with MERRF syndrome associated with A→G substitution at nucleotide 8,344 of mtDNA. This case suggests that differences in lifestyle and gene polymorphism among races may be related to the prevalence of MSL due to mitochondrial abnormality, and that mitochondrial abnormalities should be considered as a cause of MSL even in Japanese patients.<br>

収録刊行物

• Internal Medicine

  Internal Medicine 49 (5), 479-482, 2010

  一般社団法人 日本内科学会

キーワード

• myoclonic epilepsy with ragged red fibers (MERRF)
• multiple symmetric lipomatosis
• mitochondria

詳細情報

• CRID: 1390001204871410688
• NII論文ID: 130000251700
• DOI: 10.2169/internalmedicine.49.2996
• ISSN: 13497235
• ISSN: 09182918
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine/49/5/49_5_479/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2010255453
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可