Mutations in the complex iii assembly factor tetratricopeptide 19 gene ttc19 are a rare cause of leigh syndrome

JIMD Reports

Volumn 14, Issue , 2014, Pages 43-45

  Atwal, P S ^a  

^a STANFORD UNIVERSITY   (United States)

Author keywords

Global developmental delay; Leigh syndrome; Optic atrophy; Protein truncation; Truncate mutation

Indexed keywords

EID: 85060283015     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_282     Document Type: Chapter

References (2)

1. Balasubramaniam S, Oates S, Jolley A et al (2012) Mitochondrial complex III deficiency associated with a homozygous mutation in TTC19, Human Genetics Society of Australasia Meeting, Canberra
2. Ghezzi D, Arzuffi P, Zordan M et al (2011) Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 43(3):259–263