Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum
XY Zhang, HL Dong, ZY Wu - Brain, 2023 - academic.oup.com
In a recent article published in Brain, Jacquier and colleagues 1 extended the spectrum of
COQ7-associated disorders by reporting a novel homozygous mutation (c. 3G> T, p. 1Met?) …
COQ7-associated disorders by reporting a novel homozygous mutation (c. 3G> T, p. 1Met?) …
New variants expand the neurological phenotype of COQ7 deficiency
MA Fabra, AJ Paredes‐Fuentes… - Journal of Inherited …, 2024 - Wiley Online Library
The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants
MA Desbats, L Salviati - Brain, 2023 - academic.oup.com
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants |
Brain | Oxford Academic Skip to Main Content Advertisement Oxford Academic Journals …
Brain | Oxford Academic Skip to Main Content Advertisement Oxford Academic Journals …
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
I Pettenuzzo, S Carli, A Sánchez-Cuesta… - European Journal of …, 2024 - nature.com
COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of
encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is …
encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is …
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
H Sait, M Pandey, SR Phadke - Journal of Genetics, 2024 - Springer
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related
disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and …
disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and …
[PDF][PDF] New variants expand the neurological phenotype of COQ7 deficiency
M Alcazar-Fabra, AJ Paredes-Fuentes… - 2024 - scientiasalut.gencat.cat
The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3-
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …
demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations …
COQ7-Related Juvenile-Onset Motor Neuronopathy: A New Pathogenetic Dysfunction Associated with Motor Neuron Disease
PVS Souza, IB Farias, PL Serrano, BML Badia… - Sclerosis, 2023 - mdpi.com
A 38-year-old Brazilian man presented with slowly progressive quadriparesis since age 11
years. He progressed over 15 years with symptoms restricted to the lower limbs, and since …
years. He progressed over 15 years with symptoms restricted to the lower limbs, and since …