Coats’ Disease and Congenital Retinoschisis in a Single Eye: A Case Report and DNA Analysis

2001 ◽  
Vol 215 (2) ◽  
pp. 132-135 ◽  
Author(s):  
Daniel M. Berinstein ◽  
Miki Hiraoka ◽  
Michael T. Trese ◽  
Barkur S. Shastry
1984 ◽  
Vol 51 (1) ◽  
pp. 124-125 ◽  
Author(s):  
Pithak Kitcharoen ◽  
Yoshinori Shimizu
Keyword(s):  

2015 ◽  
Vol 6 (2) ◽  
pp. 169
Author(s):  
Siddharam Janti ◽  
Charanya Chendilnathan ◽  
AyyakuttyMuni Raja ◽  
Adnan Matheen

Author(s):  
S. Pelotti ◽  
V. Mantovani ◽  
G. Angelini ◽  
F. Barboni ◽  
G. Pappalardo

2009 ◽  
Vol 2 (1) ◽  
pp. 208-209
Author(s):  
Lisbeth Borjas ◽  
William Zabala ◽  
Tatiana Pardo ◽  
José M. Quintero ◽  
Samanda Guerra ◽  
...  

2011 ◽  
Vol 52 (1) ◽  
pp. 112 ◽  
Author(s):  
Dae Joong Ma ◽  
Jin Choi ◽  
Ji Woong Jang ◽  
Jeong Hun Kim ◽  
Seong Joon Kim ◽  
...  
Keyword(s):  

1998 ◽  
Vol 56 (4) ◽  
pp. 812-818 ◽  
Author(s):  
VIVIANE H. FLUMIGNAN ZÉTOLA ◽  
ROSANA HERMÍNIA SCOLA ◽  
SALMO RASKIN ◽  
DANIEL MONTE SERRAT PREVENDELLO ◽  
YLMAR CORREA NETO ◽  
...  

We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.


2014 ◽  
Vol 25 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Raquel Martín-Sanz ◽  
David Peña ◽  
Alberto López-Miguel ◽  
María B. Coco-Martín ◽  
Hermenegildo González-García ◽  
...  

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