A Homozygous <i>LAMA2</i> Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient-Reference-Cited by-同舟云学术

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

Published:2018 Issue:6 Volume:57 Page:877-882
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Kubota Akatsuki¹,Ishiura Hiroyuki¹,Mitsui Jun¹,Sakuishi Kaori¹,Iwata Atsushi¹,Yamamoto Tomotaka¹,Nishino Ichizo²,Tsuji Shoji¹,Shimizu Jun¹

Affiliation:

1. Department of Neurology, The University of Tokyo, Japan

2. Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/57/6/57_9588-17/_pdf

Reference24 articles.

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2. 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. 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. 4. Holmberg J, Durbeej M. Laminin-211 in skeletal muscle function. Cell Adh Migr 7: 111-121, 2013.

5. 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.

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