Abstract
The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence.
References
May 17, 2002·Nihon rinsho. Japanese journal of clinical medicine·Takehiro YasukawaShigeo Ohta
Apr 12, 2003·Brain : a Journal of Neurology·Simone BosbachMichael Wagner
May 5, 2005·Proceedings of the National Academy of Sciences of the United States of America·Yohei KirinoTsutomu Suzuki
May 17, 2005·FEBS Letters·Takehiro YasukawaKimitsuna Watanabe
Jul 29, 2005·Psychiatry and Clinical Neurosciences·An-A KazunoTadafumi Kato
Oct 6, 2005·Mutation Research·Roshan S Jahangir TafrechiAnton K Raap
Apr 25, 2006·Acta Neurologica Scandinavica·C-S LiuY-H Wei
Jun 1, 2006·CNS Drugs·Fernando Scaglia, Jennifer L Northrop
Nov 18, 2006·Psychiatry and Clinical Neurosciences·Sandeep GroverSubho Chakrabarti
Feb 16, 2007·Mitochondrion·Neil ManwaringCarolyn M Sue
May 16, 2007·Neurology·M DeschauerR W Taylor
Jun 26, 2007·Acta Neurologica Scandinavica·J Finsterer
Jun 26, 2007·Journal of Affective Disorders·Michelangelo MancusoGabriele Siciliano
Feb 29, 2008·Annals of Neurology·Antoon J M JanssenLambert P van den Heuvel
May 6, 2008·Experimental Neurology·Jacopo C DiFrancescoAntony H Schapira
Jun 24, 2008·Journal of the Neurological Sciences·Josef Finsterer
Jul 30, 2008·International Journal of Cardiology·Josef Finsterer
Citations
Jan 11, 2013·Mitochondrial DNA·Emna Mkaouar-RebaiFaiza Fakhfakh
Mar 31, 2011·Biochemical and Biophysical Research Communications·Najla MezghaniFaiza Fakhfakh
Jun 25, 2013·Clinical Biochemistry·Radu M Nanau, Manuela G Neuman