DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
K
K
Zaha
Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan. matumoto@ndmc.ac.jp.
H
H
Matsumoto
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. itoh@ncnp.go.jp.
M
M
Itoh
Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
H
H
Saitsu
Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
K
K
Kato
Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Yamagata, Japan.
M
M
Kato
Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
S
S
Ogata
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
K
K
Murayama
Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Y
Y
Kishita
Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.|Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Y
Y
Mizuno
Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
M
M
Kohda
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
I
I
Nishino
Department of Pediatrics, Saitama Medical University, Saitama, Japan.
A
A
Ohtake
Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.|Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Y
Y
Okazaki
Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
N
N
Matsumoto
Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
S
S
Nonoyama
D001927:Brain Diseases / Q000235:genetics*; D034281:Dynamins; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D010641:Phenotype
D008869:Microtubule-Associated Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C110768:DNM1L protein, human; D034281:Dynamins