Homozygous myotonic dystrophy:: Clinical findings in two patients and review of the literature

被引：4
作者：
Zuehlke, Christine
Roeder, Elizabeth
Purmann, Sabine
Wieczorek, Dagmar
Curry, Cynthia
Loustalet, Cheri
Hellenbroich, Yorck
Ricbardt, Hans Helmut
Gillessen-Kaesbach, Gabriele
机构：
[1] Univ Klinikum Schleswig Holstein, Inst Human Genet, D-23538 Lubeck, Germany
[2] Univ Texas, Hlth Sci Ctr, Div Genet & Metab Disorders, San Antonio, TX USA
[3] Univ Klinikum Essen, Inst Human Genet, Essen, Germany
[4] Univ Calif San Francisco, San Francisco, CA 94143 USA
[5] Genet Med Cent Calif, Fresno, CA USA
[6] Genzyme Genet, Los Angeles, CA USA
[7] Evangel Krankenhaus Bethanien, Iserlohn, Germany
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 17期
关键词：
D O I：
10.1002/ajmg.a.31772
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2058 / 2061
页数：4
相关论文
共 50 条
[31]   Familial homozygous hypercholesterolemia: Report of two patients and review of the literature [J].
Sethuraman, Gomathy ;
Sugandhan, Selvendran ;
Sharma, Gautam ;
Chandramohan, Kudligi ;
Chandra, Nimai Chand ;
Dash, Sushruta Shefali ;
Komal, Aggarwal ;
Sharma, Vinod K. .
PEDIATRIC DERMATOLOGY, 2007, 24 (03) :230-234
[32]   NEW ROENTGENOLOGIC FINDINGS IN MYOTONIC DYSTROPHY - ANALYSIS OF 18 PATIENTS [J].
LEE, KF ;
LIN, SR ;
HODES, PJ .
AMERICAN JOURNAL OF ROENTGENOLOGY, 1972, 115 (01) :179-+
[33]   OCULAR FINDINGS IN MYOTONIC-DYSTROPHY [J].
RAITTA, C ;
KARLI, P .
ANNALS OF OPHTHALMOLOGY, 1982, 14 (07) :647-650
[34]   NEUROPSYCHOLOGICAL FINDINGS IN MYOTONIC-DYSTROPHY [J].
WOODWARD, JB ;
HEATON, RK ;
SIMON, DB ;
RINGEL, SP .
JOURNAL OF CLINICAL NEUROPSYCHOLOGY, 1982, 4 (04) :335-342
[35]   Cranial MRI findings in myotonic dystrophy [J].
Miaux, Y ;
Chiras, J ;
Eymard, B ;
LauriotPrevost, MC ;
Radvanyi, H ;
MartinDuverneuil, N ;
Delaporte, C .
NEURORADIOLOGY, 1997, 39 (03) :166-170
[36]   Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy [J].
Seijo-Martínez, M ;
del Río, MC ;
Campos, Y ;
Palau, F ;
Arenas, J ;
Teijeira, S ;
Hojas, RF ;
Navarro, C .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 208 (1-2) :87-91
[37]   ELECTROCARDIOGRAPHIC FINDINGS IN MYOTONIC-DYSTROPHY [J].
FORSBERG, H ;
HENRIKSSON, A ;
OLOFSSON, BO ;
ANDERSSON, S ;
BJERLE, P ;
WEDIN, I .
ANNALS OF CLINICAL RESEARCH, 1987, 19 (06) :450-450
[38]   ELECTROCARDIOGRAPHIC FINDINGS IN MYOTONIC-DYSTROPHY [J].
OLOFSSON, BO ;
FORSBERG, H ;
ANDERSSON, S ;
BJERLE, P ;
HENRIKSSON, A ;
WEDIN, I .
BRITISH HEART JOURNAL, 1988, 59 (01) :47-52
[39]   Cranial MRI findings in myotonic dystrophy [J].
Y. Miaux ;
J. Chiras ;
B. Eymard ;
M. C. Lauriot-Prevost ;
H. Radvanyi ;
N. Martin-Duverneuil ;
C. Delaporte .
Neuroradiology, 1997, 39 :166-170
[40]   Clinical Findings and Treatments of Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy): A Review of the Literature [J].
Han, Kyung Eun ;
Kim, Tae-im ;
Chung, Woo Suk ;
Choi, Seung-il ;
Kim, Bong-yoon ;
Kim, Eung Kweon .
EYE & CONTACT LENS-SCIENCE AND CLINICAL PRACTICE, 2010, 36 (05) :296-299
12345