Title: | Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation |
Journal : | Journal of Neuromuscular Diseases, 3, 1 |
Authors: | Garibaldi M, Author ; Bohm J ; Fattori F ; Koch C ; Surace C ; Ottaviani P ; Laschena F ; Laporte J ; Bertini E ; Antonini G ; Romero NB |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 111 |
Languages: | English |
Keywords: | CK elevation;Congenital myopathies;autosomal dominant BIN1 mutation;centronuclear myopathies (CNM);late-onset;myalgias; |
Pubmed / DOI : | DOI : 10.3233/JND-150125 / Pubmed : 27854204 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27854204 |