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肌肉萎缩症

Muscular Dystrophies.

作者信息

Chen Yi-Wen, Bittel Adam J, Bittel Daniel C, Moon Young Jae, McCormack Nikki M, Jaiswal Jyoti K

机构信息

Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.

Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

出版信息

Adv Exp Med Biol. 2025;1478:245-284. doi: 10.1007/978-3-031-88361-3_11.

Abstract

Skeletal muscles remodel and regenerate in response to physiological and pathological conditions. Muscle disorders can be caused by disturbance of molecular and cellular pathways that are important in maintaining muscle homeostasis in response to physiological stimuli and environmental challenges. Muscular dystrophies are a heterogeneous group of rare, progressive diseases involving muscle degeneration and regeneration, with defects and failure in regeneration contributing to muscle loss and functional decline. Currently, there is no cure for these diseases, although many therapeutic approaches are in development. In this chapter, we discuss genetic causes, disease mechanisms, and therapeutic development for the most common muscular dystrophies, including Duchenne muscular dystrophy (DMD), myotonic dystrophy (MD) facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophies (LGMD).

摘要

骨骼肌会根据生理和病理状况进行重塑和再生。肌肉疾病可能由分子和细胞途径的紊乱引起,这些途径在响应生理刺激和环境挑战以维持肌肉内环境稳定方面至关重要。肌营养不良症是一组异质性的罕见进行性疾病,涉及肌肉变性和再生,再生缺陷和失败导致肌肉损失和功能衰退。目前,这些疾病尚无治愈方法,尽管许多治疗方法正在研发中。在本章中,我们将讨论最常见的肌营养不良症的遗传病因、疾病机制和治疗进展,包括杜氏肌营养不良症(DMD)、强直性肌营养不良症(MD)、面肩肱型肌营养不良症(FSHD)和肢带型肌营养不良症(LGMD)。

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