Title: | Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies |
Journal : | European journal of neurology, 25, 6 |
Authors: | Nilipour Y, Author ; Nafissi S ; Tjust AE ; Ravenscroft G ; Hossein Nejad Nedai H ; Taylor RL ; Varasteh V ; Pedrosa Domellof F ; Zangi M ; Tonekaboni SH ; Olive M ; Kiiski K ; Sagath L ; Davis MR ; Laing NG ; Tajsharghi H |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 841 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; gène RYR3 ; genetic analysis ; genetic diagnosis ; genetic mutations ; immunofluorescence ; muscle histopathology ; rod myopathy ; ryanodine receptor ; skeletal muscle |
Keywords: | RYR3;intracellular Ca2+ channels;nemaline myopathy;ryanodine receptors; |
Pubmed / DOI : | DOI : 10.1111/ene.13607 / Pubmed : 29498452 |
N° Profil MNM : | 2018031 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29498452 |