CHONDRODYSTROPHIC MYOTONIA (SCHWARTZ-JAMPEL SYNDROME) - REPORT OF A NEW CASE AND FOLLOW-UP OF PATIENTS INITIALLY REPORTED IN 1969

被引：18
作者：
EDWARDS, WC
ROOT, AW
机构：
[1] ALL CHILDRENS HOSP,ST PETERSBURG,FL 33701
[2] UNIV S FLORIDA,COLL MED,DEPT OPHTHALMOL,TAMPA,FL 33612
[3] UNIV S FLORIDA,COLL MED,DEPT PEDIAT,TAMPA,FL 33612
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1982年 / 13卷 / 01期
关键词：
D O I：
10.1002/ajmg.1320130109
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：51 / 56
页数：6
相关论文
共 13 条
[1]   CHONDRODYSTROPHIC MYOTONIA - REPORT OF 2 CASES - MYOTONIA, DWARFISM, DIFFUSE BONE DISEASE, AND UNUSUAL OCULAR AND FACIAL ABNORMALITIES [J].
ABERFELD, DC ;
NAMBA, T ;
VYE, MV ;
GROB, D .
ARCHIVES OF NEUROLOGY, 1970, 22 (05) :455-&
[2]  
AVERYANOV YN, 1978, ZH NEVROPATOL PSIKH, V78, P1498
[3]   SCHWARTZ-JAMPEL SYNDROME - CLINICAL, ELECTROPHYSIOLOGICAL AND HISTOPATHOLOGICAL STUDY OF A SEVERE VARIANT [J].
CAO, A ;
CIANCHETTI, C ;
CALISTI, L ;
DEVIRGILIIS, S ;
FERRELI, A ;
TANGHERONI, W .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1978, 35 (2-3) :175-187
[4]  
Catel W, 1951, DIFFERENTIAL DIAGNOS, P48
[5]  
FOWLER WM, 1974, J NEUROL SCI, V22, P127
[6]  
LOPEZTERRADAS J, 1979, AN ESP PEDIATR, V12, P345
[7]   MYOTONIA SHORTNESS OF STATURE AND HIP DYSPLASIA [J].
MEREU, TR ;
PORTER, IH ;
HUG, G .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (04) :470-+
[8]   IMMUNO-DEFICIENCY IN SCHWARTZ-JAMPEL SYNDROME [J].
MOLLICA, F ;
MESSINA, A ;
STIVALA, F ;
PAVONE, L .
ACTA PAEDIATRICA SCANDINAVICA, 1979, 68 (01) :133-135
[9]  
Plasencia A, 1980, An Esp Pediatr, V13, P1031
[10]   OBSERVATIONS ON RESPONSIVENESS OF HUMAN SUBJECTS TO HUMAN GROWTH HORMONE - EFFECTS OF ENDOGENOUS GROWTH HORMONE DEFICIENCY AND MYOTONIC DYSTROPHY [J].
RUDMAN, D ;
CHYATTE, SB ;
PATTERSON, JH ;
GERRON, GG ;
OBEIRNE, I ;
BARLOW, J ;
AHMANN, P ;
JORDAN, A ;
MOSTELLER, RC .
JOURNAL OF CLINICAL INVESTIGATION, 1971, 50 (09) :1941-+
12