<scp> <i>PDXK</i> </scp> ‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

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Authors

Dmitrii Subbotin · Research Centre for Medical Genetics

Daria Akimova · Research Centre for Medical Genetics

Elena Dadali · Research Centre for Medical Genetics

Kristina Mikhalchuk · Research Centre for Medical Genetics

Artem Borovikov · Research Centre for Medical Genetics

V. V. Kadyshev · Research Centre for Medical Genetics

Mikhail Skoblov

Abstract

Here we report a novel splice-altering missense variant in PDXK that induces aberrant transcript degradation, revealing a new disease mechanism for PDXK-related neuropathy.

Topics & Keywords

Cell death mechanisms and regulation Protein Kinase Regulation and GTPase Signaling Nuclear Structure and Function

Publication Details

Published in: Molecular Genetics & Genomic Medicine

Volume 14, Issue 4, pp. e70210-e70210

DOI: 10.1002/mgg3.70210

Field-Weighted Citation Impact: 0.00

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<scp> <i>PDXK</i> </scp> ‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Authors

Abstract

Topics & Keywords

Publication Details