MUTATIONS IN THE DYSTROPHIN-ASSOCIATED PROTEIN GAMMA-SARCOGLYCAN IN CHROMOSOME-13 MUSCULAR-DYSTROPHY

被引:470
作者
NOGUCHI, S
MCNALLY, EM
BENOTHMANE, K
HAGIWARA, Y
MIZUNO, Y
YOSHIDA, M
YAMAMOTO, H
BONNEMANN, CG
GUSSONI, E
DENTON, PH
KYRIAKIDES, T
MIDDLETON, L
HENTATI, F
BENHAMIDA, M
NONAKA, I
VANCE, JM
KUNKEL, LM
OZAWA, E
机构
[1] CHILDRENS HOSP, DIV GENET, BOSTON, MA 02155 USA
[2] CHILDRENS HOSP, HOWARD HUGHES MED INST, BOSTON, MA 02155 USA
[3] DUKE UNIV, MED CTR, DEPT MED, DIV NEUROL, DURHAM, NC 27710 USA
[4] CYPRUS INST NEUROL & GENET, NICOSIA, CYPRUS
[5] INST NEUROL, TUNIS, TUNISIA
关键词
D O I
10.1126/science.270.5237.819
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, gamma-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human gamma-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect gamma-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.
引用
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页码:819 / 822
页数:4
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