Rudinger‐Thirion, Joëlle

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Human Mutation | May 22, 2020 | Volume: 41 | Issue: 8 | Pages: 1425-1434

10.1002/humu.24050 | PMID 32442335