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

Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases

1995 ◽  
Vol 17 (4) ◽  
pp. 271-275 ◽  
Author(s):  
Haluk Topalogˇlu ◽  
Ays¸enur Cila ◽  
Ali Haydar Tas¸demir ◽  
Is¸il Saats¸i
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Brain Involvement

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

2012 ◽  
Vol 22 (2) ◽  
pp. 149-151 ◽  
Author(s):  
Ayako Hattori ◽  
Hirofumi Komaki ◽  
Masao Kawatani ◽  
Hiroshi Sakuma ◽  
Yoshiaki Saito ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Lmna Gene ◽  
Brain Involvement

scholarly journals A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

2021 ◽  
Vol 12 ◽  
Author(s):  
P. A. Chausova ◽  
O. P. Ryzhkova ◽  
G. E. Rudenskaya ◽  
V. B. Chernykh ◽  
O. A. Shchagina ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
De Novo ◽  
Direct Sequencing ◽  
Congenital Muscular Dystrophy ◽  
Pathogenic Variant ◽  
Inactive Form ◽  
Genomic Dnas ◽  
Mosaic Form ◽  
Birth Family ◽  
Gene Mutation Analysis

Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue. The type of inheritance of this disease is autosomal recessive. De novo variants with this type of inheritance are rare, and it is quite possible that the de novo variant may hide a mosaic form in the parent of an affected child. We present a birth family with two affected children who inherited a previously undescribed pathogenic variant c.1755del from their mother and a previously described pathogenic variant c.9253C > T in the LAMA2 gene from their mosaic father. LAMA2 gene mutation analysis was performed by mass parallel sequencing and direct sequencing of genomic DNAs.

Brain involvement in a series of cases with merosin-positive congenital muscular dystrophy

1997 ◽  
Vol 7 (6-7) ◽  
pp. 433 ◽  
Author(s):  
C.P. Trevisan ◽  
F. Martinello ◽  
M. Armani ◽  
E. Pastorello ◽  
A. Piazza ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Brain Involvement

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

2017 ◽  
Vol 39 (4) ◽  
pp. 361-364 ◽  
Author(s):  
Pakize Karaoglu ◽  
Nicolas Quizon ◽  
Matthias Pergande ◽  
Haicui Wang ◽  
Ayşe Ipek Polat ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
De Novo ◽  
Congenital Muscular Dystrophy ◽  
De Novo Mutations
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