Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family()

We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeat...

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Bibliographic Details
Published in:Mol Genet Metab Rep
Main Authors: Fu, Xiaona, Zheng, Feixia, Zhang, Yao, Bao, Xinhua, Wang, Shuang, Yang, Yanling, Xiong, Hui
Format: Artigo
Language:Inglês
Published: Elsevier 2015
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Research Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471393/
https://ncbi.nlm.nih.gov/pubmed/28649548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.10.015
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