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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. (2022)

First Author: Magrinelli F

Attributed to: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/mdc3.13398

PubMed Identifier: 35141356

Publication URI: http://europepmc.org/abstract/MED/35141356

Type: Journal Article/Review

Volume: 9

Parent Publication: Movement disorders clinical practice

Issue: 2

ISSN: 2330-1619