Muscle Weakness in an Adult With 22q11.2 Deletion Syndrome

This case report provides the first evidence that coenzyme Q10 may improve muscle weakness in patients with 22q11.2DS. The patient's genetic copy number deletion mutation region mainly contains COMT, PRODH functional genes related with mitochondria dynamics. The level of L‐arginine was signific...

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Bibliographic Details
Published in:CNS neuroscience & therapeutics 2024-11, Vol.30 (11), p.e70094-n/a
Main Authors: Wang, Cong‐Cong, Zhou, Yang, Li, Xiao‐Li, Du, Tong, Duan, Rui‐Sheng
Format: Article
Language:English
Subjects:
22q11.2 deletion syndrome
Adult
Arginine - genetics
Case Report
Case reports
Catechol O-Methyltransferase - genetics
Chromosomes
Clinical medicine
coenzyme Q10
DiGeorge Syndrome - complications
DiGeorge Syndrome - genetics
Electrolytes
Fatty acids
Genomes
Humans
Kinases
Male
Metabolism
Metabolites
metabolome
muscle weakness
Muscle Weakness - genetics
Patients
Phosphorylation
Thyroid gland
Ubiquinone - analogs & derivatives
Ubiquinone - deficiency
Ubiquinone - genetics
Ubiquinone - therapeutic use
Ultrasonic imaging
Citations: Items that this one cites
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Summary:This case report provides the first evidence that coenzyme Q10 may improve muscle weakness in patients with 22q11.2DS. The patient's genetic copy number deletion mutation region mainly contains COMT, PRODH functional genes related with mitochondria dynamics. The level of L‐arginine was significantly increased after treatment by coenzyme Q10 in serum.
ISSN:1755-5930
1755-5949
1755-5949
DOI:10.1111/cns.70094