Title: | X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype |
Journal : | Neuromuscular disorders : NMD |
Authors: | Shaughnessy N ; Forman EB ; O'Rourke D ; Lynch SA ; Lynch B |
Material Type: | Article |
Publisher: | England, 11/2019 |
Languages: | English |
Keywords : | case studies ; Europe (geography) ; genotype-phenotype correlation ; infants ; Ireland ; male ; motor neuron disease ; neuromuscular disease ; spinal muscular atrophy ; X-linked inheritance |
Keywords: | arthrogryposis;contractures;motor neuronopathy;UBA1 gene;X-linked spinal muscular atrophy (SMAX2); |
Pubmed / DOI : | Pubmed : 31932168 / DOI : 10.1016/j.nmd.2019.11.004 |
N° Profil MNM : | 2020012 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31932168 |