Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. [electronic resource]
- Journal of medical genetics Aug 2010
- 507-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2009.067553 doi
Adolescent Adult Amino Acid Sequence Amino Acid Substitution--genetics Base Sequence Child, Preschool DNA Mutational Analysis Electron Transport Complex I--genetics Family Female Homozygote Humans Leigh Disease--diagnostic imaging Leukocytes, Mononuclear--enzymology Magnetic Resonance Imaging Male Methyltransferases--chemistry Mitochondrial Proteins--chemistry Molecular Sequence Data Morocco Mutation--genetics Pedigree Tomography, X-Ray Computed Young Adult