Ullrich disease due to deficiency of collagen VI in the sarcolemma

被引：66

作者：

Ishikawa, H

Sugie, K

Murayama, K

Awaya, A

Suzuki, Y

Noguchi, S

Hayashi, YK

Nonaka, I

Nishino, I

机构：

[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo 1878502, Japan

[2] Natl Ctr Neurol & Psychiat, Natl Ctr Hosp Mental Nervous & Muscular Disorders, Tokyo, Japan

[3] Natl Rehabil Ctr Disabled Children, Dept Pediat, Tokyo, Japan

[4] Nagoya City Univ Hosp, Dept Pediat, Aichi, Japan

[5] Osaka Med Ctr, Div Pediat Neurol, Osaka, Japan

[6] Res Inst Maternal & Child Hlth, Osaka, Japan

[7] Nihon Univ, Sch Med, Dept Internal Med, Tokyo, Japan

[8] Nara Med Univ, Dept Neurol, Kashihara, Nara, Japan

来源：

NEUROLOGY | 2004年 / 62卷 / 04期

关键词：

D O I：

10.1212/01.WNL.0000113023.84421.00

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors identified eight patients with Ullrich disease in whom collagen VI was present in the interstitium but was absent from the. sarcolemma. By electron microscopy, collagen VI in the interstitium was never linked to the basal lamina. These findings suggest that in these patients it is not the total absence of collagen VI from the muscle but the failure of collagen VI to anchor the basal lamina to the interstitium that is the cause of Ullrich disease. Only one of the patients had a mutation in the collagen VI gene, suggesting that the primary abnormality in most of the patients involved some other molecules.

引用

收藏

页码：620 / 623

页数：4

相关论文

共 10 条

[1] Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy [J].

Demir, E ;

Sabatelli, P ;

Allamand, V ;

Ferreiro, A ;

Moghadaszadeh, B ;

Makrelouf, M ;

Topaloglu, H ;

Echenne, B ;

Merlini, L ;

Guicheney, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) :1446-1458

[2]

Fallon JR, 2002, J NEUROL SCI, V199, pS3

[3] Mutations in the integrin α7 gene cause congenital myopathy [J].

Hayashi, YK ;

Chou, FL ;

Engvall, E ;

Ogawa, M ;

Matsuda, C ;

Hirabayashi, S ;

Yokochi, K ;

Ziober, BL ;

Kramer, RH ;

Kaufman, SJ ;

Ozawa, E ;

Goto, Y ;

Nonaka, I ;

Tsukahara, T ;

Wang, JZ ;

Hoffman, EP ;

Arahata, K .

NATURE GENETICS, 1998, 19 (01) :94-97

[4] Frameshift mutation in the collagen VI gene causes Ullrich's disease [J].

Higuchi, I ;

Shiraishi, T ;

Hashiguchi, T ;

Suehara, M ;

Niiyama, T ;

Nakagawa, M ;

Arimura, K ;

Maruyama, I ;

Osame, M .

ANNALS OF NEUROLOGY, 2001, 50 (02) :261-265

[5] Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness [J].

Ishikawa, H ;

Sugie, K ;

Murayama, K ;

Ito, M ;

Minami, N ;

Nishino, I ;

Nonaka, I .

NEUROLOGY, 2002, 59 (06) :920-923

[6] Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen [J].

Kuo, HJ ;

Maslen, CL ;

Keene, DR ;

Glanville, RW .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (42) :26522-26529

[7] Collagen VI involvement in Ullrich syndrome - A clinical, genetic, and immunohistochemical study [J].

Mercuri, E ;

Yuva, Y ;

Brown, SC ;

Brockington, M ;

Kinali, M ;

Jungbluth, H ;

Feng, L ;

Sewry, CA ;

Muntoni, F .

NEUROLOGY, 2002, 58 (09) :1354-1359

[8] A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen [J].

Pepe, G ;

Bertini, E ;

Giusti, B ;

Brunelli, T ;

Comeglio, P ;

Saitta, B ;

Merlini, L ;

Chu, ML ;

Federici, G ;

Abbate, R .

NEUROMUSCULAR DISORDERS, 1999, 9 (04) :264-271

[9] Congential, atonic-sclerotic muscle dystrophy, a further type of heredodegenerative diseases of the neuro muscular system. [J].

Ullrich, O .

ZEITSCHRIFT FUR DIE GESAMTE NEUROLOGIE UND PSYCHIATRIE, 1930, 126 :171-201

[10]

Vanegas OC, 2001, P NATL ACAD SCI USA, V98, P7516