scholarly journals Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a Japanese child: Clinical, radiological and molecular genetic analysis

2013 ◽  
Vol 14 (3) ◽  
pp. 317-322 ◽  
Author(s):  
Laila Selim ◽  
Dina Mehaney
Keyword(s):  
Lactic Acidosis ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Japanese Child ◽  
Mitochondrial Encephalopathy

Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

2001 ◽  
Vol 94 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Kenichi Amagasaki ◽  
Tsuneo Shimizu ◽  
Yoko Suzuki ◽  
Toshiyuki Kakizawa
Keyword(s):  
Lactic Acidosis ◽  
Genetic Analysis ◽  
Mitochondrial Myopathy ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Metabolic Dysfunction ◽  
Nucleotide Pair ◽  
Content Type ◽  
Typical Point ◽  
Fine Print

✓ 28-year-old woman presented with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The diagnosis was based on the results of molecular genetic analysis, which indicated a typical point mutation at the nucleotide pair 3243. Xenon computerized tomography scans obtained during the strokelike episodes revealed the lesion responsible for the symptoms to be an area of focal hyperperfusion, and scans obtained after the episodes revealed an area of hypoperfusion. Pathogenesis of the strokelike episodes appears to be metabolic dysfunction, although the involvement of a vascular event cannot be excluded.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

scholarly journals Molecular genetic analysis of a class B periplasmic-flagellum gene of Treponema phagedenis.

1992 ◽  
Vol 174 (20) ◽  
pp. 6404-6410 ◽  
Author(s):  
R J Limberger ◽  
L L Slivienski ◽  
D B Yelton ◽  
N W Charon
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Class B ◽  
Flagellum Gene
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