@article{oai:twinkle.repo.nii.ac.jp:00017862,
 author = {池谷, 紀代子 and 斎藤, 加代子 and 小峯, 聡 and 伊藤, 万由里 and 鈴木, 陽子 and 宍倉, 啓子 and 平山, 義人 and 炭田, 澤子 and 大澤, 真木子},
 issue = {E1},
 journal = {東京女子医科大学雑誌},
 month = {Jun},
 note = {小児科学教室大澤真木子教授開講5周年記念特集, The expression of the laminin α2 chain in skeletal muscle from 16 Fukuyama type congenital muscular dystrophy (FCMD) cases was examined by immunohistochemistry and compared with the clinical features and DNA haplotype of each patients. Only one case showed distinctly reduced expression of the laminin α2 chain, and he also showed motor dysfunction typical of FCMD and relatively mild mental impairment. The brain MRI findings were similar to those in typical FCMD cases and completely different from reported merosin-negative congenital muscular dystrophy (CMD) cases. Haplotype analysis at the 9q31 region revealed he showed heterozygosity with the unique and the ancestral haplotypes. It is possible that mutation of the FCMD gene may have a secondary effect on expression of laminin α2 chain.},
 pages = {E23--E31},
 title = {福山型筋ジストロフィー(FCMD)骨格筋におけるlaminin α2 chainの検討(<特集>小児科学教室大澤真木子教授開講5周年記念)},
 volume = {70},
 year = {2000}
}