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The family comprised nine patients (six men and three women). We reviewed their clinical records and performed mutation analysis of the copper/zinc superoxide dismutase (SOD1) gene in some of these patients. The patients either had a rapid (n = 7) or an extremely long (n = 2) clinical course. The mean age at onset was 39.0 +/- 13.7 years (range 20-68 years). The initial symptoms were bulbar palsy (n = 2), upper (n = 4) or lower (n = 2) limb muscle weakness, or leg cramps (n = 1). The total disease duration varied widely, ranging from one year to \u003e69 years. We identified a SOD1 C111Y mutation among patients in this family. In conclusion, the family showed a marked intrafamilial phenotypic variation associated with the SOD1 C111Y mutation. Elucidating the biological basis of disease expression in patients with the SOD1 C111Y mutation may provide us with useful information to develop therapeutic approaches and to prevent disease progression."}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Nakamura,  Akinori", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22182", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Hineno,  Akiyo", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22183", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yoshida,  Kunihiro", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22184", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sekijima,  Yoshiki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22185", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Hanaoka-Tachibana,  Naoko", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22186", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takei,  Yo-Ichi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22187", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ohara,  Shinji", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22188", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ikeda,  Shu-Ichi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "22189", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2015-09-25"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "ALS_with_SOD1_C111Y_Manuscript_final version.pdf", "filesize": [{"value": "401.5 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 401500.0, "url": {"label": "ALS_with_SOD1_C111Y_Manuscript_final version.pdf", "url": "https://soar-ir.repo.nii.ac.jp/record/8038/files/ALS_with_SOD1_C111Y_Manuscript_final version.pdf"}, "version_id": "5e83b68c-4de6-4828-9bf7-234b83746fc3"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Familial amyotrophic lateral sclerosis", "subitem_subject_scheme": "Other"}, {"subitem_subject": "spinal muscular atrophy", "subitem_subject_scheme": "Other"}, {"subitem_subject": "copper/zinc superoxide dismutase (SOD1)", "subitem_subject_scheme": "Other"}, {"subitem_subject": "gene analysis", "subitem_subject_scheme": "Other"}, {"subitem_subject": "slow progression", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation", "subitem_title_language": "en"}]}, "item_type_id": "6", "owner": "1", "path": ["883"], "permalink_uri": "http://hdl.handle.net/10091/17368", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2014-01-31"}, "publish_date": "2014-01-31", "publish_status": "0", "recid": "8038", "relation": {}, "relation_version_is_last": true, "title": ["Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation"], "weko_shared_id": -1}