Title: | Expanding the phenotype of GMPPB mutations |
Journal : | Brain : a journal of neurology, 138, Pt 4 |
Authors: | Cabrera-Serrano M ; Ghaoui R ; Ravenscroft G ; Johnsen RD ; Davis MR ; Corbett A ; Reddel S ; Sue CM ; Liang C ; Waddell LB ; Kaur S ; Lek M ; North KN ; Macarthur DG ; Lamont PJ ; Clarke NF ; Laing NG |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 836 |
Languages: | English |
Keywords : | alpha-dystroglycanopathy ; Australia ; differential diagnosis ; genetic mutations ; GMPPB gene ; GMPPB-related limb-girdle muscular dystrophy R19 ; observational research ; phenotypes |
Keywords: | GMPPB;alpha-dystroglycan;dystroglycanopathies;limb-girdle muscular dystrophy;rhabdomyolysis; |
Pubmed / DOI : | DOI : 10.1093/brain/awv013 / Pubmed : 25681410 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25681410 |
See also : |