Title: | Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations |
Journal : | Journal of neuropathology and experimental neurology, 73, 5 |
Authors: | Meilleur KG ; Zukosky K ; Medne L ; Fequiere P ; Powell-Hamilton N ; Winder TL ; AlSaman A ; El-Hattab AW ; Dastgir J ; Hu Y ; Donkervoort S ; Golden JA ; Eagle R ; Finkel R ; Scavina M ; Hood IC ; Rorke-Adams LB ; Bonnemann CG |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 425 |
Languages: | English |
Keywords : | alpha-dystroglycan ; brain ; case studies ; clinical presentation ; dystroglycan related disease ; histopathology ; immunohistochemistry ; LARGE gene ; LARGE protein related disease ; microscopy ; MRI ; nervous sytem diseases ; newborn infants ; observational research ; postnatal examination ; spinal cord |
Pubmed / DOI : | DOI : 10.1097/NEN.0000000000000065 / Pubmed : 24709677 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24709677 |