2 MUTATIONS, ONE NOVEL AND ONE FREQUENTLY OBSERVED, IN JAPANESE PATIENTS WITH MCARDLES-DISEASE

被引:29
作者
TSUJINO, S
SHANSKE, S
GOTO, Y
NONAKA, I
DIMAURO, S
机构
[1] COLUMBIA PRESBYTERIAN MED CTR, COLL PHYSICIANS & SURGEONS 4420, NEW YORK, NY 10032 USA
[2] MUSASHI HOSP, NATL CTR NEUROL & PSYCHIAT, TOKYO 187, JAPAN
关键词
D O I
10.1093/hmg/3.6.1005
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1005 / 1006
页数:2
相关论文
共 11 条
[1]   MCARDLES-DISEASE - A NONSENSE MUTATION IN EXON-1 OF THE MUSCLE GLYCOGEN-PHOSPHORYLASE GENE EXPLAINS SOME BUT NOT ALL CASES [J].
BARTRAM, C ;
EDWARDS, RHT ;
CLAGUE, J ;
BEYNON, RJ .
HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1291-1293
[2]   INTRON EXON STRUCTURE OF THE HUMAN-GENE FOR THE MUSCLE ISOZYME OF GLYCOGEN-PHOSPHORYLASE [J].
BURKE, J ;
HWANG, P ;
ANDERSON, L ;
LEBO, R ;
GORIN, F ;
FLETTERICK, R .
PROTEINS-STRUCTURE FUNCTION AND GENETICS, 1987, 2 (03) :177-187
[3]   HIGH-RESOLUTION CHROMOSOME SORTING AND DNA SPOT-BLOT ANALYSIS ASSIGN MCARDLES SYNDROME TO CHROMOSOME-11 [J].
LEBO, RV ;
GORIN, F ;
FLETTERICK, RJ ;
KAO, FT ;
CHEUNG, MC ;
BRUCE, BD ;
KAN, YW .
SCIENCE, 1984, 225 (4657) :57-59
[4]  
LOCKYER JM, 1991, J BIOL CHEM, V266, P20262
[5]  
MCARDLE B, 1951, CLIN SCI, V10, P12
[6]   A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE [J].
MOMMAERTS, WFHM ;
ILLINGWORTH, B ;
PEARSON, CM ;
GUILLORY, RJ ;
SERAYDARIAN, K .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1959, 45 (06) :791-797
[7]   CHRONIC PROGRESSIVE MYOPATHY WITH MYOGLOBINURIA - DEMONSTRATION OF A GLYCOGENOLYTIC DEFECT IN THE MUSCLE [J].
SCHMID, R ;
MAHLER, R .
JOURNAL OF CLINICAL INVESTIGATION, 1959, 38 (11) :2044-2058
[8]  
SHANSKE S, 1987, J BIOL CHEM, V262, P14612
[9]  
TSUJINO S, 1994, AM J HUM GENET, V54, P44
[10]   MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) [J].
TSUJINO, S ;
SHANSKE, S ;
DIMAURO, S .
NEW ENGLAND JOURNAL OF MEDICINE, 1993, 329 (04) :241-245