Journal article
Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan
Neuromuscular disorders : NMD, Vol.15(5), pp.342-348
2005
DOI: 10.1016/j.nmd.2005.01.009
PMID: 15833426
Abstract
Glycosylation defects of α-dystroglycan (α-DG) cause various muscular dystrophies. We performed clinical, pathological and genetic analyses of 62 Japanese patients with congenital muscular dystrophy, whose skeletal muscle showed deficiency of glycosylated form of α-DG. We found, the first Japanese patient with congenital muscular dystrophy 1C with a novel compound heterozygous mutation in the fukutin-related protein gene. Fukuyama-type congenital muscular dystrophy was genetically confirmed in 54 of 62 patients. Two patients with muscle–eye–brain disease and one Walker-Warburg syndrome were also genetically confirmed. Four patients had no mutation in any known genes associated with glycosylation of α-DG. Interestingly, the molecular mass of α-DG in the skeletal muscle was similar and was reduced to ∼90 kDa among these patients, even though the causative gene and the clinico-pathological severity were different. This result suggests that other factors can modify clinical features of the patients with glycosylation defects of α-DG.
Details
- Title: Subtitle
- Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan
- Creators
- Hiroshi Matsumoto - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanYukiko K Hayashi - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanDae-Son Kim - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanMegumu Ogawa - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanTerumi Murakami - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanSatoru Noguchi - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanIkuya Nonaka - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, JapanTomoyuki Nakazawa - Department of Pediatrics, Juntendo University, Tokyo, JapanTakiko Matsuo - The Tokyo Children's Rehabilitation Hospital, Tokyo, JapanSatoshi Futagami - Department of Pediatric Rehabilitation, NTT Izu Hospital, Shizuoka, JapanKevin P Campbell - Department of Physiology and Biophysics and Department of Neurology, Howard Hughes Medical Institute, University of Iowa, Iowa city, IA, USAIchizo Nishino - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.15(5), pp.342-348
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.nmd.2005.01.009
- PMID
- 15833426
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Grant note
- DOI: 10.13039/501100003478, name: Ministry of Health, Labour and Welfare; DOI: 10.13039/501100001695, name: Japan Science and Technology Corporation; DOI: 10.13039/501100003382, name: Core Research for Evolutional Science and Technology
- Language
- English
- Date published
- 2005
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020988502771
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