Title: | The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization |
Journal : | Revue neurologique |
Authors: | Barp A, Author ; Malfatti E ; Metay C ; Jobic V ; Carlier RY ; Laforet P |
Material Type: | Article |
Publication Date: | 05/04/2018 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; distal myopathy ; France ; gène MATR3 ; genetic analysis ; genetic diagnosis ; genetic mutations ; muscle histopathology ; whole body MRI |
Pubmed / DOI : | DOI : 10.1016/j.neurol.2017.08.004 / Pubmed : 29628183 |
N° Profil MNM : | 2018042 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29628183 |