Title: | Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene |
Journal : | Neuromuscular disorders : NMD, 23, 12 |
Authors: | Malfatti E ; Schaeffer U ; Chapon F ; Yang Y ; Eymard B ; Xu R ; Laporte J ; Romero NB |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p 992 |
Languages: | English |
Keywords: | Cap disease;Congenital structural myopathies;Exome sequencing;Nemaline myopathies; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2013.07.003 / Pubmed : 24095155 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24095155 |