title: Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia.
abstract: Mitochondrial myopathy with episodic hyper-creatine kinase (CK)-emia (MIMECK) is a new disease entity characterized by episodic or persistent muscle weakness and elevated CK levels. We herein report two cases of MIMECK with the findings of histopathological studies. Histopathological examinations revealed strongly succinate dehydrogenase-reactive vessels. Electron microscopy showed abnormal mitochondria in the vessels and proliferating and vacuolated mitochondria under the sarcolemma. Both patients exhibited recurrent severe myalgia, weakness and increased CK levels. L-arginine treatment significantly ameliorated their muscle symptoms. These findings indicate that mitochondrial angiopathy plays an important role in the pathophysiology of MIMECK. L-arginine may be a potential therapeutic agent for this disorder.
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Nozuma
authors.forename: Yuji
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Junhui
authors.initials: J
authors.lastname: Yuan
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: Akiko
authors.initials: A
authors.lastname: Yoshimura
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000627:therapeutic use*; D003402:Creatine Kinase / Q000097:blood*; D004583:Electrons; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria; D017240:Mitochondrial Myopathies / Q000188:drug therapy* / Q000473:pathology*; D018908:Muscle Weakness / Q000473:pathology; D063806:Myalgia
chemical_list: D001120:Arginine; D003402:Creatine Kinase