Studies from Kasturba Medical College Provide New Data on Leigh Disease (Bi-allelic Splicing Variant, C.153-2a > C In tomm7 Is Associated With Leigh Syndrome).

A recent study conducted at Kasturba Medical College in Manipal, India, focused on the role of the TOMM complex in Leigh Disease, a Central Nervous System condition. The research identified a novel splice variant in the TOMM7 gene associated with Leigh Syndrome in a 4-month-old female child. The study highlighted the importance of understanding aberrant splicing in genetic disorders. For more information, readers can refer to the American Journal of Medical Genetics Part A. [Extracted from the article]