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Updated: Jan 9, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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与HMGCR相关的肌肉发育不良:一种新生儿发病的严重形式的病例

Jariya Upadia1, Yuwen Li1, Yoshinori Osaki2

  • 1Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA; Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.

Neuromuscular disorders : NMD
|December 4, 2025
PubMed
概括

一个罕见的与HMGCR相关的四肢腰带肌肉缩 (LGMD) 病例,呈现出严重的新生儿症状和早期死亡. 这凸显了对这种遗传性肌肉疾病的早期诊断和向治疗的需要.

关键词:
3-基-3-甲基氨基-CoA减少酶 (HMGCR) 是一种这是一种HMGCR抑制剂.肢体腰带肌肉缩症 (LGMD) 是一种渐进的肌肉衰弱 渐进的肌肉衰弱

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