A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain complexes I (ND1–ND6, and ND4L), IV(SURF1), and V(ATP6)...

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Main Authors:	Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-ichi Goto, Noriko Aida, Hitoshi Osaka
Format:	Article
Language:	English
Published:	Elsevier 2014-01-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	Leigh syndrome Complex I deficiency Heteroplasmy mDNA mutation
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426914000226

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http://www.sciencedirect.com/science/article/pii/S2214426914000226

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

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