Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation-Reference-Cited by-同舟云学术

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

Published:2011-08 Issue:2 Volume:412 Page:245-248
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Ronchi Dario,Bordoni Andreina,Cosi Alessandra,Rizzuti Mafalda,Fassone Elisa,Di Fonzo Alessio,Servida Maura,Sciacco Monica,Collotta Martina,Ronzoni Marco,Lucchini Valeria,Mattioli Marco,Moggio Maurizio,Bresolin Nereo,Corti Stefania,Comi Giacomo P.

Funder

Telethon UILDM Project

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference13 articles.

1. Leigh and Leigh-like syndrome in children and adults;Finsterer;Pediatr. Neurol.,2008

2. Recent advances in the genetics of mitochondrial encephalopathies;Tucker;Curr. Neurol. Neurosci. Rep.,2010

3. Pathogenic mitochondrial DNA mutations in protein-coding genes;Wong;Muscle Nerve,2007

4. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis;Thyagarajan;Ann. Neurol.,1995

5. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene;Dionisi-Vici;J. Inherit. Metab. Dis.,1998

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