Article
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.
Mitochondrion - 1 May 2019
Angural Arshia, Sharma Indu, Pandoh Pranav, Sharma Varun, Spolia Akshi, Rai Ekta, Singh Vinod, Razdan Sushil, Pandita Kamal Kishore, Sharma Swarkar
Abstract excerpt
Leigh Syndrome (LS) is a rare, hereditary progressive neurodegenerative disorder of infancy or early childhood associated with a highly variable clinical presentation even among siblings. Further, genetic heterogeneity makes its diagnosis complicated. Its causative genetic variations are notified in some of the mitochondrial and nuclear genes. Here, we report an atypical case of LS in a 9-year-old boy associated...
Topics
- Basal Ganglia
- Calcinosis
- Child
- Genome, Mitochondrial
- Humans
- Leigh Disease
- Male
- Mitochondrial Proton-Translocating ATPases
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA