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Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy
A 29-year-old female experienced chronic progressive peripheral neuropathy since childhood and was diagnosed with Charcot–Marie–Tooth disease (CMT) at age 15. She developed recurrent, fever-induced rhabdomyolysis (RM) at age 24. EMG studies showed decreased amplitude of compound muscle action potent...
Autores principales: | Guan, Yuqing, Zhang, Yanxia, Shen, Xin-Ming, Zhou, Liang, Shang, Xuan, Peng, Yu, Hu, Yafang, Li, Wei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546186/ https://www.ncbi.nlm.nih.gov/pubmed/34712195 http://dx.doi.org/10.3389/fneur.2021.694966 |
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