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Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

✍ Scribed by Dr Giacomo P. Comi; Andreina Bordoni; Sabrina Salani; Liliana Franceschina; Monica Sciacco; Alessandro Prelle; Francesco Fortunato; Massimo Zeviani; Laura Napoli; Nereo Bresolin; Maurizio Moggio; Carlo D. Ausenda; Jan-Willem Taanman; Guglielmo Scarlato


Book ID
102707884
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
1023 KB
Volume
43
Category
Article
ISSN
0364-5134

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## Abstract We report a cytochrome __c__ oxidase (COX)–deficient patient, clinically affected with Leigh‐like disease, with a homozygous mutation in the __COX10__ start codon. Two‐dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assemble