Title: | ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy |
Journal : | Annals of neurology, 79, 2 |
Authors: | Park HJ, Author ; Hong YB ; Choi YC ; Lee J ; Kim EJ ; Lee JS ; Mo WM ; Ki SM ; Kim HI ; Kim HJ ; Hyun YS ; Hong HD ; Nam K ; Jung SC ; Kim SB ; Kim SH ; Oh KW ; Yoo JH ; Lee JE ; Chung KW ; Choi BO |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 231 |
Languages: | English |
Keywords : | ADSSL1 gene ; case studies ; clinical presentation ; distal myopathy ; genetic mutations ; sequencing |
Pubmed / DOI : | DOI : 10.1002/ana.24550 / Pubmed : 26506222 |
See also : |