Title: | Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy |
Journal : | American journal of human genetics, 100, 1 |
Authors: | Miyatake S, Author ; Mitsuhashi S ; Hayashi YK ; Purevjav E ; Nishikawa A ; Koshimizu E ; Suzuki M ; Yatabe K ; Tanaka Y ; Ogata K ; Kuru S ; Shiina M ; Tsurusaki Y ; Nakashima M ; Mizuguchi T ; Miyake N ; Saitsu H ; Kawai M ; Towbin J ; Nonaka I ; Nishino I ; Matsumoto N |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 169 |
Languages: | English |
Keywords : | ACTA1 gene ; adulthood ; age of disease onset ; allelic heterogeneity ; case studies ; female ; genetic mutations ; male ; myopalladin ; review article ; rod myopathy |
Keywords: | MYPN;congenital myopathy;intranuclear rod myopathy;nemaline myopathy;whole-exome sequencing; |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2016.11.017 / Pubmed : 28017374 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28017374 |
See also : |