TY - JOUR
T1 - Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase
AU - Massa, Valeria
AU - Fernandez-Vizarra, Erika
AU - Alshahwan, Saad
AU - Bakhsh, Eman
AU - Goffrini, Paola
AU - Ferrero, Ileana
AU - Mereghetti, Paolo
AU - D'Adamo, Pio
AU - Gasparini, Paolo
AU - Zeviani, Massimo
PY - 2008/6/6
Y1 - 2008/6/6
N2 - Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
AB - Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
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U2 - 10.1016/j.ajhg.2008.05.002
DO - 10.1016/j.ajhg.2008.05.002
M3 - Article
C2 - 18499082
AN - SCOPUS:45449121006
VL - 82
SP - 1281
EP - 1289
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -