A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report-Reference-Cited by-同舟云学术

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

Published:2009-10-15 Issue:1 Volume:3 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Abu-Amero Khaled K,Al-Dhalaan Hesham,Bohlega Saeed,Hellani Ali,Taylor Robert W

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/article/10.1186/1752-1947-3-77/fulltext.html

Reference7 articles.

1. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP: MELAS: an original case and clinical criteria for diagnosis. Neuromuscul Disord. 1992, 2 (2): 125-135. 10.1016/0960-8966(92)90045-8.

2. Abu-Amero KK, Ozand PT, Al-Dhalaan H: Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS. J Child Neurol. 2006, 21 (11): 971-972. 10.1177/08830738060210110601.

3. Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW: MELAS associated with mutations in the POLG1 gene. Neurology. 2007, 68 (20): 1741-1742. 10.1212/01.wnl.0000261929.92478.3e.

4. Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A: Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I. J Neuropathol Exp Neurol. 2005, 64 (2): 123-128.

5. Abu-Amero KK, Bosley TM: Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol Vis Sci. 2006, 47 (10): 4211-4220. 10.1167/iovs.06-0295.

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