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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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	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
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Wiley 2025-08-01
سلاسل:	Annals of Clinical and Translational Neurology
الموضوعات:	Leigh Syndrome mitochondrial ribosome MRPS14 oxidative phosphorylation
الوصول للمادة أونلاين:	https://doi.org/10.1002/acn3.70065
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!