Publications by authors named "Nitchanund Tantisirivit"
Article Synopsis
- - A variant in the MRPS23 gene was identified as potentially linked to a mitochondrial disorder in a patient, prompting further investigation across multiple cases to confirm its role as a disease gene.
- - In a study of 5 patients with similar symptoms, all were found to be homozygous for the c.119C>T; p.P40L variant in MRPS23, predominantly from the Hmong hilltribe, and exhibited various clinical signs including growth issues, hearing loss, and metabolic dysfunction.
- - Laboratory tests on patient-derived fibroblasts showed significant respiratory chain deficiencies, and the variant was traced back to an estimated occurrence around 1550 years ago, establishing the condition as an autosomal recessive mitochondrial disorder linked
