Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the ß Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.

Guan, Yuqing; Zhang, Yanxia; Shen, Xin-Ming; Zhou, Liang; Shang, Xuan; Peng, Yu; Hu, Yafang; Li, Wei

Guan, Yuqing; Zhang, Yanxia; Shen, Xin-Ming; Zhou, Liang; Shang, Xuan; Peng, Yu; Hu, Yafang; Li, Wei.

Afiliação

Guan Y; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Zhang Y; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Shen XM; Department of Neurology, Mayo Clinic, Rochester, MN, United States.
Zhou L; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Shang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Peng Y; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Hu Y; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Li W; Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Front Neurol ; 12: 694966, 2021.

Article em En | MEDLINE | ID: mdl-34712195

Palavras-chave

Charcot-Marie-Tooth disease; HADHB; mitochondrial trifunctional protein deficiency; peripheral neuropathy; rhabdomyolysis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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