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Article

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

American journal of medical genetics. Part A - 1 Nov 2024

Uehara Takeshi, Seki Eijun, Nonoda Yutaka, Kumaki Tatsuro, Tsuyusaki Yu, Aida Noriko, Enomoto Yumi, Ishikura Kenji, Kurosawa Kenji

Abstract excerpt

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy of unknown etiology. The underlying mechanisms are highly heterogeneous, often including genetic backgrounds. Variants of LARS1, encoding the leucyl-tRNA synthetase 1, are responsible for infantile liver failure syndrome 1. We describe two siblings with ANE caused by compound heterozygous variants of LARS1. Patient 1 was a 17-month-old...

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Identifiers

PMID: 38923116
DOI: 10.1002/ajmg.a.63803

Genes

LARS1

Variants

Provenance

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