LITTLE Myles Hughes was born deaf with a dislocated left hip, but it wasn’t until he was two that mum Georgia grew concerned.

The study, published in Proceedings of the National Academy of Sciences, shows that the gene transmembrane protein 63A, or TMEM63A, plays a major role in infantile hypomyelinating leukodystrophy ...

The Health Resources and Services Administration is requesting public comments on its recommendation to add metachromatic ...

Orchard Therapeutics has secured reimbursement from another European market for Libmeldy, an ex vivo gene therapy for the rare childhood disease metachromatic leukodystrophy (MLD) first approved ...

Claire Edwards has AARS2 leukodystrophy which affects the brain and nervous system A man is desperately trying to raise awareness of a rare genetic disorder affecting his wife. Paul Edwards said ...

About this article Cite this article Schuelke, M., Smeitink, J., Mariman, E. et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

The study, published in Proceedings of the National Academy of Sciences, shows that the gene transmembrane protein 63A, or TMEM63A, plays a major role in infantile hypomyelinating leukodystrophy ...