Article
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Clinical neuropathology - 1 Jan 2000
Lu Yuanyuan, Wu Rui, Meng Lingchao, Lv He, Liu Jing, Zuo Yuehuan, Zhang Wei, Yuan Yun, Wang Zhaoxia
Abstract excerpt
Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT). Both patients were unrelated. Case 1 was a 19-year-old man, and case 2 was a 5-year-old boy. Both had delayed motor development and slowly-progressing distal muscle...
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