Title: | Milder forms of muscular dystrophy associated with POMGNT2 mutations |
Journal : | Neurology. Genetics, 1, 4 |
Authors: | Endo Y ; Dong M ; Noguchi S ; Ogawa M ; Hayashi YK ; Kuru S ; Sugiyama K ; Nagai S ; Ozasa S ; Nonaka I ; Nishino I |
Material Type: | Article |
Publication Date: | 2015 |
Languages: | English |
Keywords : | case studies ; children ; clinical presentation ; diagnosis ; dystroglycanopathy ; intellectual developmental disorder ; limb girdle muscular dystrophy ; male ; POMGNT2 gene ; POMGNT2-related limb-girdle muscular dystrophy R24 |
Lien associé : | Texte complet disponible sur PubMed Central (PMC) |
Pubmed / DOI : | DOI : 10.1212/NXG.0000000000000033 / Pubmed : 27066570 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27066570 |