Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Anju Shukla, Malavika Hebbar, Anshika Srivastava, Rajagopal Kadavigere, Priyanka Upadhyai, Anil Kanthi, Oliver Brandau, Stephanie L. Bielas, Katta M. Girisha
This study identifies a homozygous ISCA1 variant causing a new type of multiple mitochondrial dysfunctions syndrome with similar clinical features to known MMDS types.
Journal of Human Genetics · Mar 30, 2017Peer-reviewedGenetics