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

• Egile Nagusiak: Hsin-Ming Liu (Egilea), Li-Ping Tsai (Egilea), Yin-Hsiu Chien (Egilea), Jia-Feng Wu (Egilea), Wen-Chin Weng (Egilea), Shinn-Forng Peng (Egilea), En-Ting Wu (Egilea), Pei-Hsin Huang (Egilea), Wang-Tso Lee (Egilea), I-Jun Tsai (Egilea), Wuh-Liang Hwu (Egilea), Ni-Chung Lee (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2012-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...