Title: | Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat |
Journal : | Neuromuscular disorders : NMD, 24, 11 |
Authors: | Grunseich C ; Kats IR ; Bott LC ; Rinaldi C ; Kokkinis A ; Fox D ; Chen KL ; Schindler AB ; Mankodi AK ; Shrader JA ; Schwartz DP ; Lehky TJ ; Liu CY ; Fischbeck KH |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 978 |
Languages: | English |
Keywords : | AR gene ; autonomic nervous system ; CAG triplet repeats ; case studies ; early onset disease ; genotype-phenotype correlation ; ibuprofen ; Kennedy disease ; motor disorders ; neurological features ; neuromuscular features ; orbicularis oculi muscle ; sensitive disorders |
Keywords: | Androgen receptor;Genetics;Kennedy’s disease;Motor neuron disease;Spinal bulbar muscular atrophy; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.06.441 / Pubmed : 25047668 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25047668 |
See also : |