Mutations in FASTKD5, which codes for a protein essential for processing the primary mitochondrial transcript, were identified in subjects who presented with Leigh syndrome and cytochrome c oxidase de...

Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner. Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. Continue reading...

We identify bi-allelic variants in the mitoribosomal large subunit encoded by MRPL49 as a cause of a pleiotropic presentation of hearing loss, ovarian failure, learning disability, and leukodystrophy ...