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J-GLOBAL ID：201802263194621135   Reference number：18A0809952

A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient

日本人患者における部分メロシン欠損を引き起こすc.818G>Aのホモ接合型LAMA2変異

Author (9)： Kubota Akatsuki (Department of Neurology, The University of Tokyo, Japan) ,  Ishiura Hiroyuki (Department of Neurology, The University of Tokyo, Japan) ,  Mitsui Jun (Department of Neurology, The University of Tokyo, Japan) ,  Sakuishi Kaori (Department of Neurology, The University of Tokyo, Japan) ,  Iwata Atsushi (Department of Neurology, The University of Tokyo, Japan) ,  Yamamoto Tomotaka (Department of Neurology, The University of Tokyo, Japan) ,  Nishino Ichizo (Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan) ,  Tsuji Shoji (Department of Neurology, The University of Tokyo, Japan) ,  Shimizu Jun (Department of Neurology, The University of Tokyo, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 57  Issue： 6  Page： 877-882(J-STAGE)  Publication year： 2018 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *LAMA2遺伝子 ,...

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Author keywords (5)： merosin ,  LAMA2 ,  partial merosin deficiency ,  leukoencephalopathy ,  lissencephaly

JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (24)：

• 1. Wewer UM, Engvall E. Merosin/laminin-2 and muscular dystrophy. Neuromuscul Disord 6: 409-418, 1996.
• 2. Leivo I, Engvall E. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci U S A 85: 1544-1548, 1988.
• 3. Villanova M, Malandrini A, Toti P, et al. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol 28: 1-4, 1996.
• 4. Holmberg J, Durbeej M. Laminin-211 in skeletal muscle function. Cell Adh Migr 7: 111-121, 2013.
• 5. Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 10: 91-94, 2002.

Terms in the title (6)： 日本人 ,  患者 ,  メロシン ,  欠損 ,  ホモ ,  変異