scholarly journals A novel de�novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report

2019 ◽  
Author(s):  
Kien Tran ◽  
Vinh Le ◽  
Chinh Vu ◽  
Liem Nguyen
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
De Novo ◽  
Congenital Muscular Dystrophy ◽  
De Novo Variant

Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report

2016 ◽  
Vol 23 (3) ◽  
pp. 173
Author(s):  
Young Mi Han ◽  
Na Rae Lee ◽  
Mi Hye Bae ◽  
Kyung Hee Park ◽  
Jin Hong Shin ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy

G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

2012 ◽  
Vol 22 (9-10) ◽  
pp. 829-830
Author(s):  
L. Mrazova ◽  
P. Vondracek ◽  
H. Buckova ◽  
L. Fajkusova ◽  
M. Hermanova ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Epidermolysis Bullosa ◽  
Congenital Muscular Dystrophy

A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report

2009 ◽  
Vol 63 (2) ◽  
pp. 155-159 ◽  
Author(s):  
Hiromu Mishima ◽  
Hisao Hirata ◽  
Hideyuki Ono ◽  
Kanji Choshi ◽  
Yoshikazu Nishi ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Gyrate Atrophy

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

2002 ◽  
Vol 106 (2) ◽  
pp. 117-121 ◽  
Author(s):  
E. Zanoteli ◽  
J. C. C. Rocha ◽  
L. K. Narumia ◽  
M. A. T. Fireman ◽  
L. S. Moura ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Japanese Population ◽  
Congenital Muscular Dystrophy

Myopathy, Unique Clinical Features, and Brain Malformations Mimicking Fukuyama Congenital Muscular Dystrophy: A Case Report

1993 ◽  
Vol 13 (4) ◽  
pp. 253-258 ◽  
Author(s):  
Hiroshi Nakayama ◽  
Susumu Ando ◽  
Hideaki Tomi ◽  
Nobuhiko Sunohara ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Congenital Muscular Dystrophy ◽  
Brain Malformations

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

2020 ◽  
Vol 7 (1) ◽  
pp. 69-76
Author(s):  
Rocío N. Villar-Quiles ◽  
Marta Gomez-Garcia de la Banda ◽  
Annie Barois ◽  
Celine Bouchet-Séraphin ◽  
Norma B. Romero ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
De Novo ◽  
Congenital Muscular Dystrophy ◽  
Brain Involvement

MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report

2000 ◽  
Vol 43 (5) ◽  
pp. 629
Author(s):  
Jeonghyun Yoo ◽  
Yookyung Kim ◽  
Haesoo Koo ◽  
Ki Deuk Park
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Mr Imaging ◽  
Congenital Muscular Dystrophy
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