Title: | SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy |
Journal : | Neuromuscular disorders : NMD, 22, 3 |
Authors: | Rudnik Schoneborn S ; Arning L ; Epplen JT ; Zerres K |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 258-262 |
Languages: | English |
Keywords : | case studies ; genetic analysis ; genetic mutations ; genotype-phenotype correlation ; juvenile amyotrophic lateral sclerosis ; molecular genetics ; motor neuron disease ; muscle weakness ; phenotypes ; photographies ; research prospects ; SETX gene ; young adults |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22088787 |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2011.09.006 |