Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case
Author:
Publisher
Wiley
Subject
Neurology (clinical),General Medicine,Pathology and Forensic Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1789.2010.01115.x/fullpdf
Reference24 articles.
1. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation;Mongini;Clin Neuropathol,2002
2. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF;Naini;Arch Neurol,2005
3. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation;Wilichowski;J Neurol Sci,1998
4. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome;Crimi;Neurology,2003
5. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS;Pulkes;Ann Neurol,1999
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