High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation
Corresponding Author
Hisashi Kawashima
Department of Pediatrics, Tokyo Medical University
Hisashi Kawashima, MD, PhD, Department of Pediatrics, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan. Email: [email protected]Search for more papers by this authorKiyoko Watanabe
Department of Child Neurology, Okayama University Hospital, Okayama
Search for more papers by this authorYasuyoshi Morishima
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorYasuyo Kashiwagi
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorTasuku Miyajima
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorKouji Takekuma
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorIchizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo
Search for more papers by this authorHironao Numabe
Department of Biomedical Ethics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this authorCorresponding Author
Hisashi Kawashima
Department of Pediatrics, Tokyo Medical University
Hisashi Kawashima, MD, PhD, Department of Pediatrics, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan. Email: [email protected]Search for more papers by this authorKiyoko Watanabe
Department of Child Neurology, Okayama University Hospital, Okayama
Search for more papers by this authorYasuyoshi Morishima
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorYasuyo Kashiwagi
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorTasuku Miyajima
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorKouji Takekuma
Department of Pediatrics, Tokyo Medical University
Search for more papers by this authorIchizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo
Search for more papers by this authorHironao Numabe
Department of Biomedical Ethics, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Search for more papers by this author
References
- 1 Mochizuki H, Miyatake S, Suzuki M et al. Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan. Intern. Med. 2008; 47: 1207–10.
- 2 Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res. Brain Res. Rev. 2000; 32: 277–307.
- 3 Villanova M, Malandrini A, Biancotti R et al. Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency. Neuromuscul Disord. 1996; 6: 167–72.
- 4 Kumagai T, Miura K, Ohki T et al. [Central nervous system involvements in Duchenne/Becker muscular dystrophy]. No To Hattatsu 2001; 33: 480–6.
- 5 Bhat SS, Schmidt KR, Ladd S et al. Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Cytogenet. Genome Res. 2006; 112: 170–5.
- 6 Saito-Ohara F, Fukuda Y, Ito M et al. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am. J. Hum. Genet. 2002; 71: 637–45.
- 7 Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H. A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution? Trends. Genet. 2001; 17: 697–701.
- 8 Hayashi S, Honda S, Minaguchi M et al. Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis. J. Hum. Genet. 2007; 52: 397–405.
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