Title: | The genetics of congenital myopathies |
Journal : | Handbook of clinical neurology, 148 |
Authors: | Gonorazky HD, Author ; Bonnemann CG ; Dowling JJ |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 549 |
Languages: | English |
Keywords : | central core disease ; centronuclear myopathy ; clinical presentation ; clinical variations ; congenital myopathy ; genetic analysis ; genetic diagnosis ; genetic mutations ; genotype-phenotype correlation ; muscle histopathology ; phenotypic heterogeneity ; physiopathology ; reviews ; rod myopathy ; therapeutic prospects |
Keywords: | animal;central core;centronuclear;congenital;genetics;human;model;mutation; myopathies;nemaline;structural; |
Pubmed / DOI : | DOI : 10.1016/B978-0-444-64076-5.00036-3 / Pubmed : 29478600 |
N° Profil MNM : | 2018032 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29478600 |