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Updated: May 27, 2025

Purification of the Sarco-Endoplasmic Reticulum Ca2+-ATPase from Rabbit Muscle
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Purification of the Sarco-Endoplasmic Reticulum Ca2+-ATPase from Rabbit Muscle

Published on: March 21, 2025

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主导性Rabdomyolysis与一种复发的ATP2A2变体相关,该变体降低了肌肉中的SERCA2功能

Sivasankar Malaichamy1,2, Romane Idoux1, Kiran Polavarapu1

  • 1Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.

Brain : a journal of neurology
|February 19, 2025
PubMed
概括

一种新型的ATP2A2基因变异通过损害骨肌肉中的处理来引起复发性拉布地质溶解. 这一发现为受影响家庭提供了诊断见解,并促进了对肌肉疾病的理解.

关键词:
在ATP2A2A2中,在Ca2+的恒常状态下.自体主导的自体主导.功能性研究是指功能性研究.下一代测序的下一代测序.拉布多米溶解 (rhabdomyolysis) 是一种治疗方法.

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