EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

Author:

Martinelli Diego,Catteruccia Michela,Piemonte Fiorella,Pastore Anna,Tozzi Giulia,Dionisi-Vici Carlo,Pontrelli Giuseppe,Corsetti Tiziana,Livadiotti Susanna,Kheifets Viktoria,Hinman Andrew,Shrader William D.,Thoolen Martin,Klein Matthew B.,Bertini Enrico,Miller Guy

Funder

Telethon Italy

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Subacute necrotizing encephalomyelopathy in an infant;Leigh;J. Neurol. Neurosurg. Psychiatry,1951

2. The mutation at NT-8993 of mitochondrial-DNA is a common-cause of Leighs Syndrome;Santorelli;Ann. Neurol.,1993

3. Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics;Tsygankova;Zh. Nevropatol. Psikhiatr. Im. S. S. Korsakova,2010

4. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients;Piekutowska-Abramczuk;Eur. J. Paediatr. Neurol.,2009

5. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome;Zhu;Nat. Genet.,1998

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