BECKER MUSCULAR-DYSTROPHY (BMD) AND KLINEFELTERS-SYNDROME - A POSSIBLE CAUSE OF VARIABLE EXPRESSION OF BMD WITHIN A PEDIGREE

被引:16
作者
SUTHERS, GK
MANSON, JI
STERN, LM
HAAN, EA
MULLEY, JC
机构
[1] ADELAIDE CHILDRENS HOSP,DEPT NEUROL,N ADELAIDE,SA 5006,AUSTRALIA
[2] ADELAIDE CHILDRENS HOSP,DEPT MED GENET & EPIDEMIOL,N ADELAIDE,SA 5006,AUSTRALIA
[3] REGENCY PK CTR YOUNG DISABLED,REGENCY PK,SA,AUSTRALIA
关键词
D O I
10.1136/jmg.26.4.251
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:251 / 254
页数:4
相关论文
共 19 条
[1]   MUSCULAR-DYSTROPHY IN GIRLS WITH X-AUTOSOME TRANSLOCATIONS [J].
BOYD, Y ;
BUCKLE, V ;
HOLT, S ;
MUNRO, E ;
HUNTER, D ;
CRAIG, I .
JOURNAL OF MEDICAL GENETICS, 1986, 23 (06) :484-490
[2]   DUCHENNE MUSCULAR-DYSTROPHY IN ONE OF MONOZYGOTIC TWIN GIRLS [J].
BURN, J ;
POVEY, S ;
BOYD, Y ;
MUNRO, EA ;
WEST, L ;
HARPER, K ;
THOMAS, D .
JOURNAL OF MEDICAL GENETICS, 1986, 23 (06) :494-500
[3]  
DELACHAPELLE A, 1983, PRINCIPLES PRACTICE, P193
[4]  
EMERY AEH, 1976, CLIN GENET, V10, P189
[5]   DETECTION OF CARRIERS OF BENIGN X-LINKED MUSCULAR DYSTROPHY [J].
EMERY, AEH ;
CLACK, ER ;
SIMON, S ;
TAYLOR, JL .
BRITISH MEDICAL JOURNAL, 1967, 4 (5578) :522-&
[6]  
Emery AEH, 1987, DUCHENNE MUSCULAR DY
[7]   PREFERENTIAL DELETION OF EXONS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES [J].
FORREST, SM ;
CROSS, GS ;
SPEER, A ;
GARDNERMEDWIN, D ;
BURN, J ;
DAVIES, KE .
NATURE, 1987, 329 (6140) :638-640
[8]   X-LINKED MUSCULAR-DYSTROPHY [J].
FURUKAWA, T ;
PETER, JB .
ANNALS OF NEUROLOGY, 1977, 2 (05) :414-416
[9]   SEX CHROMATIN PATTERN IN SEMINIFEROUS TUBULE DYSGENESIS AND OTHER TESTICULAR DISORDERS - RELATIONSHIP TO TRUE HERMAPHRODISM AND TO KLINEFELTERS SYNDROME, WITH A REVIEW OF GONADAL ONTOGENESIS [J].
GRUMBACH, MM ;
BLANC, WA ;
ENGLE, ET .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1957, 17 (06) :703-736
[10]   INTRAFAMILIAL VARIABILITY OF X-LINKED PROGRESSIVE MUSCULAR-DYSTROPHY - MILD AND ACUTE FORM OF X-LINKED MUSCULAR-DYSTROPHY IN SAME FAMILY [J].
HAUSMANOWAPETRUSEWICZ, I ;
BORKOWSKA, J .
JOURNAL OF NEUROLOGY, 1978, 218 (01) :43-50