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Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous...

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Autors principals: Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson
Format: Artigo
Idioma:Inglês
Publicat: Wiley 2025-08-01
Col·lecció:Annals of Clinical and Translational Neurology
Matèries:
Leigh Syndrome
mitochondrial ribosome
MRPS14
oxidative phosphorylation
Accés en línia:https://doi.org/10.1002/acn3.70065
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