Title: | Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families |
Journal : | European journal of neurology |
Authors: | Jonson PH, Author ; Palmio J ; Johari M ; Penttila S ; Evila A ; Nelson I ; Bonne G ; Wiart N ; Meyer V ; Boland A ; Deleuze JF ; Masson C ; Stojkovic T ; Chapon F ; Romero NB ; Sole G ; Ferrer X ; Ferreiro A ; Hackman P ; Richard I ; Udd B |
Material Type: | Article |
Publication Date: | 13/02/2018 |
Languages: | English |
Keywords : | clinical presentation ; distal myopathy ; DNAJB6 gene ; DNAJB6-related limb-girdle muscular dystrophy D1 ; genetic analysis ; genetic diagnosis ; genetic mutations |
Keywords: | genetic and inherited disorders;myopathies;neuromuscular diseases; |
Pubmed / DOI : | DOI : 10.1111/ene.13598 / Pubmed : 29437287 |
N° Profil MNM : | 2018022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29437287 |