Collagen VI deficiency in Ullrich's disease

被引：20

作者：

Higuchi, I ^{[1
]}

Suehara, M

Iwaki, H

Nakagawa, M

Arimura, K

Osame, M

机构：

[1] Kagoshima Univ, Fac Med, Dept Internal Med 3, Kagoshima 890, Japan

[2] Natl Okinawa Hosp, Okinawa, Japan

来源：

ANNALS OF NEUROLOGY | 2001年 / 49卷 / 04期

关键词：

D O I：

10.1002/ana.109

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：544 / 544

页数：1

共 3 条

[1] Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures [J].

Jobsis, GJ ;

Keizers, H ;

Vreijling, JP ;

deVisser, M ;

Speer, MC ;

Wolterman, RA ;

Baas, F ;

Bolhuis, PA .

NATURE GENETICS, 1996, 14 (01) :113-115

[2] Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy [J].

Pan, TC ;

Zhang, RZ ;

Pericak-Vance, MA ;

Tandan, R ;

Fries, T ;

Stajich, JM ;

Viles, K ;

Vance, JM ;

Chu, ML ;

Speer, MC .

HUMAN MOLECULAR GENETICS, 1998, 7 (05) :807-812

[3] 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

← 1 →