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Article

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

American journal of medical genetics. Part A - 1 Sept 2017

Theisen Benjamin E, Rumyantseva Anastasia, Cohen Julie S, Alcaraz Wendy A, Shinde Deepali N, Tang Sha, Srivastava Siddarth, Pevsner Jonathan, Trifunovic Aleksandra, Fatemi Ali

Abstract excerpt

Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not...

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Identifiers

PMID: 28650581
DOI: 10.1002/ajmg.a.38339

Genes

WARS2

Variants

Provenance

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