A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we repor...

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Bibliographic Details
Main Authors: Hsin-Ming Liu, Li-Ping Tsai, Yin-Hsiu Chien, Jia-Feng Wu, Wen-Chin Weng, Shinn-Forng Peng, En-Ting Wu, Pei-Hsin Huang, Wang-Tso Lee, I-Jun Tsai, Wuh-Liang Hwu, Ni-Chung Lee
Format: Article
Language:English
Published: Elsevier 2012-08-01
Series:Pediatrics and Neonatology
Subjects:
Fanconi syndrome
mitochondrial DNA deletion
pancreatitis
Online Access:http://www.sciencedirect.com/science/article/pii/S187595721200071X

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http://www.sciencedirect.com/science/article/pii/S187595721200071X

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