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...

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Detalles Bibliográficos
Autores principales: Guan, Yuqing, Zhang, Yanxia, Shen, Xin-Ming, Zhou, Liang, Shang, Xuan, Peng, Yu, Hu, Yafang, Li, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
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

Internet

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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