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

• Main Authors: Hsin-Ming Liu (Author), Li-Ping Tsai (Author), Yin-Hsiu Chien (Author), Jia-Feng Wu (Author), Wen-Chin Weng (Author), Shinn-Forng Peng (Author), En-Ting Wu (Author), Pei-Hsin Huang (Author), Wang-Tso Lee (Author), I-Jun Tsai (Author), Wuh-Liang Hwu (Author), Ni-Chung Lee (Author)
• Format: Book
• Published: Elsevier, 2012-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...