title: Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
abstract: The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m.10158T>C mutation in the mitochondrial complex I subunit gene, MT-ND3. To prevented further deterioration of the higher brain function, the early diagnosis and treatment of mitochondrial stroke-like episodes is important.
authors.affiliation: Department of Neurology, Tokai University School of Medicine, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Mukai
authors.forename: Eiichiro
authors.initials: E
authors.lastname: Nagata
authors.forename: Atsushi
authors.initials: A
authors.lastname: Mizuma
authors.forename: Mitsuhiko
authors.initials: M
authors.lastname: Yamano
authors.forename: Keizo
authors.initials: K
authors.lastname: Sugaya
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Yu-Ichi
authors.initials: YI
authors.lastname: Goto
authors.forename: Shunya
authors.initials: S
authors.lastname: Takizawa
mesh_terms: D000140:Acidosis, Lactic / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001706:Biopsy; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D042241:Early Diagnosis; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial