The phenotypic spectrum of PTCD3 deficiency

The phenotypic spectrum of PTCD3 deficiency

Abstract The PTCD3 gene product (protein PTCD3 or MRPS39) forms the entry channel of the mitochondrial small ribosomal subunit and binds to single‐stranded mRNA. Here, we expand on the clinical manifestations of PTCD3 pathogenic variants by describing an early‐onset patient with Leigh‐like syndrome...

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Main Authors: Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:JIMD Reports
Subjects:
Leigh‐like syndrome
pentatricopeptide repeat
PTCD3
Online Access:https://doi.org/10.1002/jmd2.12424
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https://doi.org/10.1002/jmd2.12424

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