Title: | Clinical, histological, and genetic characterization of PYROXD1-related myopathy |
Journal : | Acta neuropathologica communications, 7, 1 |
Authors: | Lornage X, Author ; Schartner V ; Balbueno I ; Biancalana V ; Willis T ; Echaniz-Laguna A ; Scheidecker S ; Quinlivan R ; Fardeau M ; Malfatti E ; Lannes B ; Sewry C ; Romero NB ; Laporte J ; Bohm J |
Material Type: | Article |
Publisher: | England, 08/2019 |
Size: | p 138 |
Languages: | English |
Keywords : | case studies ; gene PYROXD1 ; neuromuscular disease ; PYROXD1 related disease |
Keywords: | Congenital myopathy;LGMD;Myofibrillar inclusions;Oxidoreductase;PYROXD1; |
Pubmed / DOI : | Pubmed : 31455395 / DOI : 10.1186/s40478-019-0781-8 |
N° Profil MNM : | 2019091 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31455395 |