A family with Leigh syndrome caused by the rarer T8993C mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005401121344/fullpdf
Reference3 articles.
1. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's Syndrome;Vries;Ann Neurol,1993
2. Segregation of the G8993 mutant mitochon-drial DNA through generations of embryonic tissues in a family at risk of Leigh syndrome;Ferlin;J Paediatr,1997
3. Clinical heterogeneity associated with the mitochondrial DNA point mutation T8993C;Santorelli;Paediatr Res,1996
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1. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes;Genetic Testing and Molecular Biomarkers;2016-07
2. Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome;Egyptian Journal of Medical Human Genetics;2013-04
3. Modes of Metabolic Compensation during Mitochondrial Disease Using the Drosophila Model of ATP6 Dysfunction;PLoS ONE;2011-10-03
4. Mitochondrial DNA-related Disorders;Bioscience Reports;2007-06-13
5. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation;American Journal of Medical Genetics Part A;2007
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