Title: | Approach to the diagnosis of congenital myopathies. |
Journal : | Neuromuscular disorders : NMD, 24, 2 |
Authors: | North KN ; Wang CH ; Clarke N ; Jungbluth H ; Vainzof M ; Dowling JJ ; Amburgey K ; Quijano Roy S ; Beggs AH ; Sewry C ; Laing NG ; Bonnemann CG |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p. 97-116 |
Languages: | English |
Keywords : | alpha-tropomyosin related cap disease ; beta-tropomyosin related cap disease ; central core disease ; centronuclear myopathy ; clinical presentation ; congenital fiber type disproportion myopathy ; congenital myopathy ; core and rod myopathy ; diagnosis ; differential diagnosis ; genetic mutations ; multiminicore disease ; muscle histopathology ; reviews ; rod myopathy |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2013.11.003 / Pubmed : 24456932 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24456932 |
See also : |