ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome

Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto Y. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. Hum Mutat. 2015 Feb;36(2):232-9.

PubMed ID: 
25393721