Title: | GNE myopathy associated with congenital thrombocytopenia: A report of two siblings |
Journal : | Neuromuscular disorders : NMD, 24, 12 |
Authors: | Izumi R ; Niihori T ; Suzuki N ; Sasahara Y ; Rikiishi T ; Nishiyama A ; Nishiyama S ; Endo K ; Kato M ; Warita H ; Konno H ; Takahashi T ; Tateyama M ; Nagashima T ; Funayama R ; Nakayama K ; Kure S ; Matsubara Y ; Aoki Y ; Aoki M |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 1068 |
Languages: | English |
Keywords: | Distal myopathy with rimmed vacuoles;Exome sequencing;GNE;Sialic acid;Thrombocytopenia;UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.07.008 / Pubmed : 25257349 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25257349 |