📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene (2024)

First Author: Matthews E

Attributed to: Exploring the role of neuromuscular excitability in sudden infant death funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s10038-024-01226-9

Publication URI: http://dx.doi.org/10.1038/s10038-024-01226-9

Type: Journal Article/Review

Parent Publication: Journal of Human Genetics

Issue: 6