Gerards, M

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