Title: | The clinical spectrum of BICD2 mutations |
Journal : | European journal of neurology |
Authors: | Frasquet M ; Camacho A ; Vilchez R ; Argente-Escrig H ; Millet E ; Vazquez-Costa JF ; Silla R ; Sánchez-Monteagudo A ; Vilchez JJ ; Espinos C ; Lupo V ; Sevilla T |
Material Type: | Article |
Publisher: | England, 02/2020 |
Languages: | English |
Keywords : | autosomal dominant proximal spinal muscular atrophy ; BICD2 gene ; case studies ; children ; female ; genotype-phenotype correlation ; male ; neuromuscular disease |
Keywords: | BICD2;Charcot-Marie-Tooth;hereditary motor neuropathy;muscle magnetic resonance imaging;spinal muscular atrophy; |
Pubmed / DOI : | Pubmed : 32056343 / DOI : 10.1111/ene.14173 |
N° Profil MNM : | 2020021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32056343 |
See also : |