DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805.

K Zaha ¹, H Matsumoto ², M Itoh ³, H Saitsu ⁴, K Kato ⁵, M Kato ⁶, S Ogata ⁵, K Murayama ⁷, Y Kishita ⁸, Y Mizuno ⁸ ⁹, M Kohda ⁹, I Nishino ¹⁰, A Ohtake ¹¹, Y Okazaki ⁸ ⁹, N Matsumoto ⁴, S Nonoyama ¹

Affiliations

1 Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
2 Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan. [email protected].
3 Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. [email protected].
4 Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
5 Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
6 Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Yamagata, Japan.
7 Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
8 Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
9 Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
10 Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
11 Department of Pediatrics, Saitama Medical University, Saitama, Japan.

PMID: 27301544 DOI: 10.1111/cge.12805

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