生検筋のWestern blotおよび免疫染色にてカルパイン3欠損を確認した肢帯型筋ジストロフィー2A型の1例 [in Japanese] A case of LGMD2A identified with both Western blot analysis and immunostaining of calpain 3 in biopsied muscle [in Japanese]
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- 衣斐 達 IBI Tohru
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 井 玲 JING Ling
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 中尾 直樹 NAKAO Naoki
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 南 成祐 MINAMI Narihiro
- 国立精神・神経センター National Center of Neurology and Psychiatry
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- 佐橋 功 SAHASHI Ko
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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Author(s)
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- 衣斐 達 IBI Tohru
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 井 玲 JING Ling
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 中尾 直樹 NAKAO Naoki
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
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- 南 成祐 MINAMI Narihiro
- 国立精神・神経センター National Center of Neurology and Psychiatry
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- 佐橋 功 SAHASHI Ko
- 愛知医科大学第四内科 Neurology Section, Department of Medicine IV, Aichi Medical University
Journal
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- 臨床神経学
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臨床神経学 40(10), 1023-1027, 2000-10-01
References: 8
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1
- 肢帯型筋ジストロフィーにおけるカルパイン3遺伝子変異の検討.厚生省「精神 神経疾患研究委託費」筋ジストロフィーおよび関連疾患の臨床病態と治療法に関する研究
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後藤雄一
高木班平成8〜10年度研究報告書, 49-51, 1999
Cited by (1)
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2
- Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
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ANDERSON LVB.
Am J Pathol 153, 1169-1179, 1998
Cited by (1)
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3
- Calpain 3の遺伝子異常がみとめられた常染色体劣性肢帯型筋ジストロフィー(LGMD2A)の4家系9症例の臨床,筋病理,遺伝子異常ならびに骨格筋におけるcalpainの発現.厚生省「精神 神経疾患研究委託費」筋ジストロフィーおよび関連疾患の臨床病態と治療法に関する研究
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川井尚臣
高木班平成8〜10年度研究報告書, 52-55, 1999
Cited by (1)
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4
- Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
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RICHARD I
Cell 81, 27-40, 1995
Cited by (18)
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5
- 肢帯型筋ジストロフィーにおけるカルパイン異常の臨床診断
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佐橋功
Mod Phys 18, 1260, 1998
Ichushi Web Cited by (1)
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- Calpainopathy-A survey of mutations and polymorphisms
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RICHARD I.
Am J Hum Genet 64, 1524-1540, 1999
DOI Cited by (5)
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7
- Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2
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ONO Y.
J Biol Chem 273, 17073-17078, 1998
Cited by (3)
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8
- Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
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SORIMACHI H.
J Biol Chem 270, 31158-31162, 1995
Cited by (6)
Cited by: 2
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1
- Appearance of numerous lobulated fibers after a protracted course of 18 years in a case of dermatomyositis [in Japanese]
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ONODERA Naoki , MIYAMOTO Kazuhito , MATSUBARA Shiro , HAYASHI Hideaki , MINAMI Narihiro , NISHINO Ichizo
臨床神経学 : CLINICAL NEUROLOGY 43(5), 270-273, 2003-05-01
Ichushi Web References (13)
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2
- A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy [in Japanese]
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SHIRAFUJI Toshihiko , OTSUKA Yoshihisa , KOBESSHO Hiroshi , MINAMI Narihiro , HAYASHI Yukiko , NISHINO Ichizo , KANDA Fumio
Rinsho Shinkeigaku 48(9), 651-655, 2008-09-01
J-STAGE Ichushi Web References (14)