Title: | 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 |
Journal : | Journal of Neuromuscular Diseases |
Authors: | Villar-Quiles RN ; De la Banda MGG ; Barois A ; Bouchet-Seraphin C ; Romero NB ; Rio M ; Quijano Roy S ; Ferreiro A |
Material Type: | Article |
Publisher: | Netherlands, 2020 |
Languages: | English |
Keywords : | case studies ; children ; chromosome 11 ; congenital muscular dystrophy ; differential diagnosis ; female ; muscle-eye-brain disease related to POMGNT1 ; muscular dystrophy ; neuromuscular disease |
Keywords: | CNV;myopathy;congenital muscular dystrophy;dystroglycanopathy;muscle-eye-brain;ocular involvement; |
Pubmed / DOI : | Pubmed : 31796684 / DOI : 10.3233/JND-190413 |
N° Profil MNM : | 2019121 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31796684 |