Title: | Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort |
Journal : | Journal of Neuromuscular Diseases |
Authors: | Jones CC ; Cook SF ; Jarecki J ; Belter L ; Reyna SP ; Staropoli J ; Farwell W ; Hobby K |
Material Type: | Article |
Publisher: | Netherlands, 11/2019 |
Languages: | English |
Keywords : | cohort studies ; family ; motor neuron disease ; neuromuscular disease ; phenotypic heterogeneity ; retrospective studies ; siblings ; SMN1-related proximal spinal muscular atrophy ; spinal muscular atrophy ; statistics |
Keywords: | child;epidemiology;genetics;growth et development;infant;mutation;neuromuscular disease; |
Pubmed / DOI : | Pubmed : 31707372 / DOI : 10.3233/JND-190399 |
N° Profil MNM : | 2019111 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31707372 |