Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene

<i>LAS1L</i> encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the <i>LAS1L</i> gene can be associated with Wilson–Turner syndrome (WTS) and, much more rarely, severe infantile hypoton...

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Bibliographic Details
Main Authors: Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Genes
Subjects:
infantile hypotonia
respiratory failure syndrome
SMARD
<i>LAS1L</i> gene
Online Access:https://www.mdpi.com/2073-4425/13/5/725

Internet

https://www.mdpi.com/2073-4425/13/5/725

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