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

Pubmed ID: 
32442335
Year: 
2020
Month: 
May
Citation: 
Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. HUMAN MUTATION (2020) PubMed